{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:47:46Z","timestamp":1791290866910,"version":"4.3.0"},"reference-count":136,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":914,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1002\/humu.22266","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T09:03:59Z","timestamp":1356599039000},"page":"417-429","source":"Crossref","is-referenced-by-count":130,"title":["An Overview and Update of<i>ATP7A<\/i>Mutations Leading to Menkes Disease and Occipital Horn Syndrome"],"prefix":"10.1155","volume":"34","author":[{"given":"Zeynep","family":"T\u00fcmer","sequence":"first","affiliation":[{"name":"Applied Human Molecular Genetics; Kennedy Center; Copenhagen University Hospital; Rigshospitalet; Glostrup; Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2013,3,5]]},"reference":[{"key":"10.1002\/humu.22266-BIB0001|humu22266-cit-0001","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<354::AID-AJMG14>3.0.CO;2-Y","article-title":"Clinical expression of Menkes disease in a girl with X;13 translocation","volume":"87","author":"Abusaad","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0002|humu22266-cit-0002","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1093\/hmg\/8.8.1547","article-title":"Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical MD","volume":"8","author":"Ambrosini","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0003|humu22266-cit-0003","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.jmb.2005.07.034","article-title":"An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A","volume":"352","author":"Banci","year":"2005","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.22266-BIB0004|humu22266-cit-0004","first-page":"154","article-title":"Menkes\u2019 kinky-hair syndrome: report of a case in a female infant","volume":"33","author":"Barton","year":"1983","journal-title":"Neurology"},{"key":"10.1002\/humu.22266-BIB0005|humu22266-cit-0005","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1399-0004.1994.tb04163.x","article-title":"X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization","volume":"46","author":"Beck","year":"1994","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0006|humu22266-cit-0006","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/BF00210423","article-title":"Two highly polymorphic CA repeats in the Menkes gene (ATP7A","volume":"96","author":"Begy","year":"1995","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22266-BIB0007|humu22266-cit-0007","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1042\/0264-6021:3570217","article-title":"Structure-function analysis of purified Enterococcus hiraeCopB copper ATPase: effect of Menkes\/Wilson disease mutation homologues","volume":"357","author":"Bissig","year":"2001","journal-title":"Biochem J"},{"key":"10.1002\/humu.22266-BIB0008|humu22266-cit-0008","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.jpeds.2004.04.033","article-title":"Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease\/occipital horn syndrome in three affected males in a single family","volume":"145","author":"Borm","year":"2004","journal-title":"J Pediatr"},{"key":"10.1002\/humu.22266-BIB0009|humu22266-cit-0009","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1006\/geno.1996.0525","article-title":"Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene","volume":"37","author":"Cecchi","year":"1996","journal-title":"Genomics"},{"key":"10.1002\/humu.22266-BIB0010|humu22266-cit-0010","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1093\/hmg\/6.3.425","article-title":"The mottled mouse as a model for human MD: identification of mutations in the Atp7a gene","volume":"6","author":"Cecchi","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0011|humu22266-cit-0011","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0193-14","article-title":"Isolation of a candidate gene for Menkes disease that encodes for a potential heavy metal binding protein","volume":"3","author":"Chelly","year":"1993","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0012|humu22266-cit-0012","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<154::AID-AJMG9>3.0.CO;2-T","article-title":"Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients","volume":"76","author":"Christodoulou","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0013|humu22266-cit-0013","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.bbamcr.2006.05.003","article-title":"Activation of superoxide dismutases: putting the metal to the pedal","volume":"1763","author":"Culotta","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.22266-BIB0014|humu22266-cit-0014","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1006\/geno.2001.6529","article-title":"Intragenic deletions at Atp7a in mouse models for Menkes disease","volume":"74","author":"Cunliffe","year":"2001","journal-title":"Genomics"},{"key":"10.1002\/humu.22266-BIB0015|humu22266-cit-0015","first-page":"43","article-title":"A new case of Menkes syndrome. Prenatal exclusion diagnosis in a subsequent pregnancy","volume":"39","author":"Dabadie","year":"1984","journal-title":"Pediatric"},{"key":"10.1002\/humu.22266-BIB0016|humu22266-cit-0016","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1086\/321290","article-title":"A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease","volume":"69","author":"Dagenais","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0017|humu22266-cit-0017","first-page":"1411","volume-title":"The metabolic basis of inherited disease","author":"Danks","year":"1989"},{"key":"10.1002\/humu.22266-BIB0019|humu22266-cit-0019","first-page":"570","article-title":"Similar splicing mutations of the Menkes\/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse","volume":"56","author":"Das","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0018|humu22266-cit-0018","first-page":"883","article-title":"Diverse mutations in patients with MD often lead to exon skipping","volume":"55","author":"Das","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0020|humu22266-cit-0020","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2007.052746","article-title":"Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes","volume":"44","author":"de Bie","year":"2007","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0021|humu22266-cit-0021","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","article-title":"Nomenclature for the description of human sequence variations","volume":"109","author":"den Dunnen","year":"2001","journal-title":"Human Genet"},{"key":"10.1002\/humu.22266-BIB0022|humu22266-cit-0022","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1111\/j.1399-0004.2010.01451.x","article-title":"Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease","volume":"79","author":"Desai","year":"2011","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0024|humu22266-cit-0024","doi-asserted-by":"crossref","first-page":"2529","DOI":"10.1002\/ajmg.a.33632","article-title":"Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain","volume":"152A","author":"Donsante","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22266-BIB0023|humu22266-cit-0023","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1136\/jmg.2007.050013","article-title":"Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease\/occipital horn syndrome","volume":"44","author":"Donsante","year":"2007","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0025|humu22266-cit-0025","doi-asserted-by":"crossref","first-page":"12278","DOI":"10.1074\/jbc.M211413200","article-title":"Supplying copper to the cuproenzyme peptidylglycine alpha-amidating monooxygenase","volume":"278","author":"El Meskini","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22266-BIB0026|humu22266-cit-0026","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22266-BIB0027|humu22266-cit-0027","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1111\/j.1471-4159.1990.tb04574.x","article-title":"Biochemical study on the critical period for treatment of the mottled brindled mouse","volume":"55","author":"Fujii","year":"1990","journal-title":"J Neurochem"},{"key":"10.1002\/humu.22266-BIB0032|humu22266-cit-0032","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s100240010142","article-title":"Menkes disease after copper histidine replacement therapy: case report","volume":"4","author":"George","year":"2001","journal-title":"Pediatr Dev Pathol"},{"key":"10.1002\/humu.22266-BIB0031|humu22266-cit-0031","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1006\/geno.1994.1341","article-title":"Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice","volume":"22","author":"George","year":"1994","journal-title":"Genomics"},{"key":"10.1002\/humu.22266-BIB0028|humu22266-cit-0028","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/ajmg.a.30155","article-title":"Early development of occipital horns in a classical Menkes patient","volume":"130A","author":"G\u00e9rard-Blanluet","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0030|humu22266-cit-0030","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1111\/j.1399-0004.1990.tb03612.x","article-title":"Clinical expression of Menkes syndrome in females","volume":"38","author":"Gerdes","year":"1990","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0029|humu22266-cit-0029","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1007\/BF00445920","article-title":"Variability in clinical expression of Menkes syndrome","volume":"148","author":"Gerdes","year":"1988","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.22266-BIB0033|humu22266-cit-0033","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/nsb0198-47","article-title":"Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase","volume":"5","author":"Gitschier","year":"1998","journal-title":"Nat Struct Biol"},{"key":"10.1002\/humu.22266-BIB0034|humu22266-cit-0034","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nature10191","article-title":"Crystal structure of a copper-transporting PIB-type ATPase","volume":"475","author":"Gourdon","year":"2011","journal-title":"Nature"},{"key":"10.1002\/humu.22266-BIB0035|humu22266-cit-0035","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/ajmg.a.31001","article-title":"Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease","volume":"139A","author":"Grange","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22266-BIB0036|humu22266-cit-0036","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1093\/hmg\/6.7.1037","article-title":"Molecular basis of the brindled mouse mutant (Mo(br): a murine model of Menkes disease","volume":"6","author":"Grimes","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0041|humu22266-cit-0041","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.braindev.2012.01.012","article-title":"Congenital abnormalities in Japanese patients with Menkes disease","volume":"34","author":"Gu","year":"2012","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22266-BIB0037|humu22266-cit-0037","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1167>3.0.CO;2-R","article-title":"ATP7A gene mutations in 16 patients with MD and a patient with occipital horn syndrome","volume":"99","author":"Gu","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0038|humu22266-cit-0038","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/S0387-7604(02)00093-1","article-title":"Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement","volume":"24","author":"Gu","year":"2002","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22266-BIB0039|humu22266-cit-0039","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s10545-005-0473-3","article-title":"A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis","volume":"28","author":"Gu","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22266-BIB0040|humu22266-cit-0040","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.braindev.2006.05.012","article-title":"The first reported case of Menkes disease caused by an Alu insertion mutation","volume":"29","author":"Gu","year":"2007","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22266-BIB0042|humu22266-cit-0042","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1006\/mgme.2001.3169","article-title":"Identification of four novel mutations in al MD and successful prenatal DNA diagnosis","volume":"73","author":"Hahn","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22266-BIB0043|humu22266-cit-0043","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF02717892","article-title":"The rate of spontaneous mutation of a human gene. 1935","volume":"83","author":"Haldane","year":"2004","journal-title":"J Genet"},{"key":"10.1002\/humu.22266-BIB0044|humu22266-cit-0044","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1002\/0471221929.ch14","volume-title":"Connective tissue and its heritable disorders, 2e","author":"Horn","year":"2002"},{"key":"10.1002\/humu.22266-BIB0045|humu22266-cit-0045","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/249852a0","article-title":"Primary defect in copper transport underlies mottled mutants in the mouse","volume":"249","author":"Hunt","year":"1974","journal-title":"Nature"},{"key":"10.1002\/humu.22266-BIB0046|humu22266-cit-0046","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1016\/0024-3205(76)90124-7","article-title":"A study of copper treatment and tissue copper levels in the murine congenital copper deficiency, mottled","volume":"19","author":"Hunt","year":"1976","journal-title":"Life Sci"},{"key":"10.1002\/humu.22266-BIB0047|humu22266-cit-0047","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1111\/j.1651-2227.1998.tb00955.x","article-title":"Lethal neonatal Menkes\u2019 disease with severe vasculopathy and fractures","volume":"87","author":"Jankov","year":"1998","journal-title":"Acta Paediatr"},{"key":"10.1002\/humu.22266-BIB0049|humu22266-cit-0049","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/ana.410380613","article-title":"Early copper therapy in classic Menkes disease patients with a novel splicing mutation","volume":"38","author":"Kaler","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22266-BIB0050|humu22266-cit-0050","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1006\/bmme.1996.0007","article-title":"Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small in-frame deletion","volume":"57","author":"Kaler","year":"1996","journal-title":"Biochem Mol Med"},{"key":"10.1002\/humu.22266-BIB0048|humu22266-cit-0048","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ng1094-195","article-title":"Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus","volume":"8","author":"Kaler","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0051|humu22266-cit-0051","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1056\/NEJMoa070613","article-title":"Neonatal diagnosis and treatment of Menkes disease","volume":"358","author":"Kaler","year":"2008","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22266-BIB0053|humu22266-cit-0053","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s10545-010-9118-2","article-title":"Molecular correlates of epilepsy in early diagnosed and treated Menkes disease","volume":"33","author":"Kaler","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22266-BIB0052|humu22266-cit-0052","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/ana.21576","article-title":"Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease","volume":"65","author":"Kaler","year":"2009","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.22266-BIB0054|humu22266-cit-0054","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320260230","article-title":"Menkes syndrome in a girl with X-autosome translocation","volume":"26","author":"Kapur","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0055|humu22266-cit-0055","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2010.01.027","article-title":"Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy","volume":"86","author":"Kennerson","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0058|humu22266-cit-0058","doi-asserted-by":"crossref","first-page":"951","DOI":"10.3346\/jkms.2011.26.7.951","article-title":"Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease","volume":"26","author":"Kim","year":"2011","journal-title":"J Korean Med Sci"},{"key":"10.1002\/humu.22266-BIB0057|humu22266-cit-0057","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.2007.049627","article-title":"Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein","volume":"44","author":"Kim","year":"2007","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0056|humu22266-cit-0056","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1136\/jmg.40.4.290","article-title":"A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase","volume":"40","author":"Kim","year":"2003","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0059|humu22266-cit-0059","doi-asserted-by":"crossref","first-page":"104A\/612","DOI":"10.1203\/00006450-199704001-00632","article-title":"Clinical biochemical and molecular characterization of a mild Menkes disease phenotype associated with a novel missense mutation in the ATP7A gene","volume":"41","author":"Kirshman","year":"1997","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.22266-BIB0060|humu22266-cit-0060","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/BF01802032","article-title":"Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome","volume":"12","author":"Kodama","year":"1989","journal-title":"J Inher Metab Dis"},{"key":"10.1002\/humu.22266-BIB0061|humu22266-cit-0061","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1007\/s10545-005-0150-6","article-title":"Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease","volume":"28","author":"Kodama","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22266-BIB0062|humu22266-cit-0062","doi-asserted-by":"crossref","first-page":"11390","DOI":"10.1039\/c003568h","article-title":"A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes disease","volume":"12","author":"Kouza","year":"2010","journal-title":"Phys Chem Chem Phys"},{"key":"10.1002\/humu.22266-BIB0063|humu22266-cit-0063","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1007\/BF02073380","article-title":"Clinical and biochemical consequences of copper-histidine therapy in Menkes disease","volume":"152","author":"Kreuder","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.22266-BIB0064|humu22266-cit-0064","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10545-006-0312-1","article-title":"Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease","volume":"29","author":"Kroepfl","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1002\/humu.22266-BIB0065|humu22266-cit-0065","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1093\/hmg\/8.6.1069","article-title":"Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants","volume":"8","author":"La Fontaine","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0066|humu22266-cit-0066","first-page":"48","article-title":"Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis","volume":"63","author":"L\u00e1szl\u00f3","year":"2010","journal-title":"Ideggyogy Sz"},{"key":"10.1002\/humu.22266-BIB0069|humu22266-cit-0069","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.1093\/hmg\/5.11.1737","article-title":"A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome","volume":"5","author":"Levinson","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0067|humu22266-cit-0067","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1038\/ng0193-6","article-title":"Are X-linked cutis laxa and Menkes disease allelic?","volume":"3","author":"Levinson","year":"1993","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0070|humu22266-cit-0070","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/ng0797-224","article-title":"Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse","volume":"16","author":"Levinson","year":"1997","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0071|humu22266-cit-0071","first-page":"163","article-title":"Mutation analysis of mottled pewter","volume":"95","author":"Levinson","year":"1997","journal-title":"Mouse Genome"},{"key":"10.1002\/humu.22266-BIB0068|humu22266-cit-0068","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0494-369","article-title":"The mottled gene is the mouse homologue of the Menkes disease gene","volume":"6","author":"Levinson","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0072|humu22266-cit-0072","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.bbadis.2005.12.011","article-title":"Correction of a mouse model of Menkes disease by the human Menkes gene","volume":"1762","author":"Llanos","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.22266-BIB0073|humu22266-cit-0073","doi-asserted-by":"crossref","first-page":"25986","DOI":"10.1074\/jbc.M308736200","article-title":"A mutational study in the transmembrane domain of Ccc2p, the yeast Cu(I)-ATPase, shows different roles for each cys-pro-cys cysteine","volume":"279","author":"Lowe","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22266-BIB0074|humu22266-cit-0074","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.abb.2007.04.013","article-title":"Biochemical basis of regulation of human copper-transporting ATPases","volume":"463","author":"Lutsenko","year":"2007","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/humu.22266-BIB0075|humu22266-cit-0075","doi-asserted-by":"crossref","first-page":"e1000261","DOI":"10.1371\/journal.pgen.1000261","article-title":"Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism","volume":"4","author":"Madsen","year":"2008a","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22266-BIB0076|humu22266-cit-0076","doi-asserted-by":"crossref","first-page":"3909","DOI":"10.1073\/pnas.0710865105","article-title":"In vivo correction of a Menkes disease model using antisense oligonucleotides","volume":"105","author":"Madsen","year":"2008b","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22266-BIB0077|humu22266-cit-0077","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1177\/088307380201700402","article-title":"Menkes gene study in the Chinese population","volume":"17","author":"Mak","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1002\/humu.22266-BIB0078|humu22266-cit-0078","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1042\/bj1800605","article-title":"Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice","volume":"180","author":"Mann","year":"1979","journal-title":"Biochem J"},{"key":"10.1002\/humu.22266-BIB0079|humu22266-cit-0079","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.cmet.2006.05.001","article-title":"Atp7a determines a hierarchy of copper metabolism essential for notochord development","volume":"4","author":"Mendelsohn","year":"2006","journal-title":"Cell Metab"},{"key":"10.1002\/humu.22266-BIB0080|humu22266-cit-0080","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1038\/ng0494-374","article-title":"Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice","volume":"6","author":"Mercer","year":"1994","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0086|humu22266-cit-0086","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng0193-20","article-title":"Isolation of a partial candidate gene for Menkes disease by positional cloning","volume":"3","author":"Mercer","year":"1993","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0081|humu22266-cit-0081","article-title":"Twenty-five novel mutations including duplications in the ATP7A gene","author":"Moizard","year":"2010","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0082|humu22266-cit-0082","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/humu.20190","article-title":"Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A","volume":"26","author":"Moller","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22266-BIB0084|humu22266-cit-0084","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1750-1172-7-6","article-title":"Clinical expression of Menkes disease in females with normal karyotype","volume":"7","author":"Moller","year":"2012","journal-title":"Orphanet J Rare Dis"},{"key":"10.1002\/humu.22266-BIB0083|humu22266-cit-0083","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1086\/302857","article-title":"Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome","volume":"66","author":"Moller","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0087|humu22266-cit-0087","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s003359900457","article-title":"A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse","volume":"8","author":"Mori","year":"1997","journal-title":"Mamm Genome"},{"key":"10.1002\/humu.22266-BIB0088|humu22266-cit-0088","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.ygeno.2005.09.011","article-title":"Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease","volume":"87","author":"Mototani","year":"2006","journal-title":"Genomics"},{"key":"10.1002\/humu.22266-BIB0089|humu22266-cit-0089","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1203\/00006450-199710000-00003","article-title":"Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease","volume":"42","author":"Murata","year":"1997","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.22266-BIB0092|humu22266-cit-0092","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s100380070024","article-title":"Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population","volume":"45","author":"Ogawa","year":"2000","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0091|humu22266-cit-0091","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s100380050144","article-title":"Identification of three novelmutations in the MNK gene in three unrelated Japanese patients with al MD","volume":"44","author":"Ogawa","year":"1999","journal-title":"J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0090|humu22266-cit-0090","first-page":"913","article-title":"Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model","volume":"43","author":"Ohta","year":"1997","journal-title":"Biochem Mol Biol Int"},{"key":"10.1002\/humu.22266-BIB0093|humu22266-cit-0093","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1399-0004.2006.00596.x","article-title":"Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?","volume":"69","author":"Olivares","year":"2006","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0095|humu22266-cit-0095","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1046\/j.1442-200X.2001.01402.x","article-title":"Transient temporal lobe changes and a novel mutation in a patient with Menkes disease","volume":"43","author":"Ozawa","year":"2001","journal-title":"Pediatr Int"},{"key":"10.1002\/humu.22266-BIB0096|humu22266-cit-0096","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1146\/annurev.biophys.093008.131331","article-title":"P-type ATPases","volume":"40","author":"Palmgren","year":"2011","journal-title":"Annu Rev Biophys"},{"key":"10.1002\/humu.22266-BIB0097|humu22266-cit-0097","first-page":"188","article-title":"A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease","volume":"39","author":"Park","year":"2009","journal-title":"Ann Clin Lab Sci"},{"key":"10.1002\/humu.22266-BIB0099|humu22266-cit-0099","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1086\/505407","article-title":"Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites","volume":"79","author":"Paulsen","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0098|humu22266-cit-0098","doi-asserted-by":"crossref","first-page":"3765","DOI":"10.1074\/jbc.273.6.3765","article-title":"Functional expression of the MD protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases","volume":"273","author":"Payne","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22266-BIB0100|humu22266-cit-0100","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1093\/hmg\/7.13.2063","article-title":"A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network","volume":"7","author":"Petris","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0101|humu22266-cit-0101","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1093\/hmg\/9.19.2845","article-title":"The Menkes copper transporter is required for the activation of tyrosinase","volume":"9","author":"Petris","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0102|humu22266-cit-0102","doi-asserted-by":"crossref","first-page":"46736","DOI":"10.1074\/jbc.M208864200","article-title":"Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate","volume":"277","author":"Petris","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22266-BIB0103|humu22266-cit-0103","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1034\/j.1399-0004.2002.620605.x","article-title":"X-linked recessive Menkes disease: identification of partial gene deletions in affected males","volume":"62","author":"Poulsen","year":"2002a","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0104|humu22266-cit-0104","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1034\/j.1399-0004.2002.620604.x","article-title":"X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion","volume":"62","author":"Poulsen","year":"2002","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0105|humu22266-cit-0105","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1089\/gte.2004.8.286","article-title":"X-linked Menkes disease: first documented report of germ-line mosaicism","volume":"8","author":"Poulsen","year":"2004","journal-title":"Genet Test"},{"key":"10.1002\/humu.22266-BIB0106|humu22266-cit-0106","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/hmg\/7.3.465","article-title":"Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome","volume":"7","author":"Qi","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0107|humu22266-cit-0107","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1096\/fj.05-4564fje","article-title":"Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress","volume":"20","author":"Qin","year":"2006","journal-title":"FASEB J"},{"key":"10.1002\/humu.22266-BIB0108|humu22266-cit-0108","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1093\/hmg\/6.3.417","article-title":"Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes\u2019 disease","volume":"6","author":"Reed","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0109|humu22266-cit-0109","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/S0002-9297(07)64297-9","article-title":"A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family","volume":"61","author":"Ronce","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0110|humu22266-cit-0110","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1042\/bj1920579","article-title":"Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes\u2019 syndrome","volume":"192","author":"Royce","year":"1980","journal-title":"Biochem J"},{"key":"10.1002\/humu.22266-BIB0111|humu22266-cit-0111","first-page":"OL141","article-title":"Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome","volume":"47","author":"Seidel","year":"2001","journal-title":"Cell Mol Biol (Noisy-le-grand)"},{"key":"10.1002\/humu.22266-BIB0112|humu22266-cit-0112","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1111\/j.1399-0004.2005.00496.x","article-title":"Copper-replacement treatment for symptomatic Menkes disease: ethical considerations","volume":"68","author":"Sheela","year":"2005","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22266-BIB0113|humu22266-cit-0113","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1203\/PDR.0b013e3181973b4e","article-title":"Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease","volume":"65","author":"Sirleto","year":"2009","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.22266-BIB0114|humu22266-cit-0114","doi-asserted-by":"crossref","first-page":"e18599","DOI":"10.1371\/journal.pone.0018599","article-title":"Splice site mutations in the ATP7A gene","volume":"6","author":"Skjorringe","year":"2011","journal-title":"PLoS One"},{"key":"10.1002\/humu.22266-BIB0115|humu22266-cit-0115","doi-asserted-by":"crossref","first-page":"11170","DOI":"10.1074\/jbc.274.16.11170","article-title":"The role of GMXCCXC metal binding sites in the copper-induced redistribution of the Menkes protein","volume":"274","author":"Strausak","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22266-BIB0116|humu22266-cit-0116","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<191::AID-AJMG7>3.0.CO;2-Q","article-title":"Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease","volume":"79","author":"Sugio","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.22266-BIB0117|humu22266-cit-0117","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/0387-7604(94)90074-4","article-title":"Electrophysiological and 99mTc-HMPAO-SPECT studies in Menkes disease","volume":"16","author":"Sztriha","year":"1994","journal-title":"Brain Dev"},{"key":"10.1002\/humu.22266-BIB0119|humu22266-cit-0119","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ymgme.2008.06.015","article-title":"Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R","volume":"95","author":"Tang","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22266-BIB0118|humu22266-cit-0118","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1097\/01.gim.0000245578.94312.1e","article-title":"Functional copper transport explains neurologic sparing in occipital horn syndrome","volume":"8","author":"Tang","year":"2006","journal-title":"Genet Med"},{"key":"10.1002\/humu.22266-BIB0120|humu22266-cit-0120","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.367","article-title":"A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation","volume":"41","author":"Tarpey","year":"2009","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0121|humu22266-cit-0121","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/BF00201846","article-title":"Incidence of Menkes disease","volume":"86","author":"T\u00f8nnesen","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22266-BIB0130|humu22266-cit-0130","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/978-1-4615-4859-1_7","article-title":"Mutation spectrum of ATP7A, the gene defective in Menkes disease","volume":"448","author":"T\u00fcmer","year":"1999","journal-title":"Adv Exp Med Biol"},{"key":"10.1002\/humu.22266-BIB0123|humu22266-cit-0123","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1093\/hmg\/1.7.483","article-title":"Characterization of a 1.0\u00a0Mb YAC contig spanning two chromosome breakpoints related to Menkes disease","volume":"1","author":"T\u00fcmer","year":"1992b","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22266-BIB0128|humu22266-cit-0128","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmg.34.4.265","article-title":"Menkes disease: recent advances and new aspects","volume":"34","author":"T\u00fcmer","year":"1997","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0127|humu22266-cit-0127","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0196-11","article-title":"Early copper-histidine treatment for Menkes disease","volume":"12","author":"T\u00fcmer","year":"1996","journal-title":"Nat Genet"},{"issue":"10","key":"10.1002\/humu.22266-BIB0132|humu22266-cit-0132","doi-asserted-by":"crossref","DOI":"10.1038\/ejhg.2011.56","article-title":"Clinical utility gene card for: Menkes Disease","volume":"19","author":"T\u00fcmer","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0129|humu22266-cit-0129","first-page":"63","article-title":"Identification of point mutations in 41 unrelated patients affected with Menkes disease","volume":"60","author":"T\u00fcmer","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0133|humu22266-cit-0133","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/ejhg.2009.187","article-title":"Menkes disease","volume":"18","author":"T\u00fcmer","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0131|humu22266-cit-0131","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/humu.10287","article-title":"Screening of 383 unrelated patients with Menkes disease and finding of 57 gross deletions in ATP7A","volume":"22","author":"T\u00fcmer","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22266-BIB0122|humu22266-cit-0122","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1007\/BF02265295","article-title":"Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2","volume":"88","author":"T\u00fcmer","year":"1992a","journal-title":"Hum Genet"},{"key":"10.1002\/humu.22266-BIB0125|humu22266-cit-0125","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg.31.8.615","article-title":"First trimester prenatal diagnosis of Menkes disease by DNA analysis","volume":"31","author":"T\u00fcmer","year":"1994a","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22266-BIB0126|humu22266-cit-0126","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00711804","article-title":"Detection of mutations in Menkes disease and implications in carrier diagnosis","volume":"17","author":"T\u00fcmer","year":"1994b","journal-title":"J Inher Metab Dis"},{"key":"10.1002\/humu.22266-BIB0124|humu22266-cit-0124","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/0888-7543(95)80160-N","article-title":"Characterization of the exon structure of the Menkes disease gene using vectorette PCR","volume":"26","author":"T\u00fcmer","year":"1995","journal-title":"Genomics"},{"key":"10.1002\/humu.22266-BIB0134|humu22266-cit-0134","first-page":"1133","article-title":"Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1","volume":"48","author":"Verga","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22266-BIB0135|humu22266-cit-0135","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s00018-011-0743-1","article-title":"The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression","volume":"69","author":"Vonk","year":"2012","journal-title":"Cell Mol Life Sci"},{"key":"10.1002\/humu.22266-BIB0136|humu22266-cit-0136","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1038\/ng0193-7","article-title":"Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase","volume":"3","author":"Vulpe","year":"1993","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22266-BIB0137|humu22266-cit-0137","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1442-200x.2004.02012.x","article-title":"Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography","volume":"47","author":"Watanabe","year":"2005","journal-title":"Pediatr Int"},{"key":"10.1002\/humu.22266-BIB0138|humu22266-cit-0138","doi-asserted-by":"crossref","first-page":"175","DOI":"10.3901\/JME.2008.05.175","article-title":"A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease","volume":"121","author":"Zhang","year":"2008","journal-title":"Chin Med J (Engl)"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22266","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22266\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:15Z","timestamp":1672332855000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":136,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22266","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}