{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T17:41:57Z","timestamp":1760204517618},"reference-count":39,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1617,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1002\/humu.21474","type":"journal-article","created":{"date-parts":[[2011,2,9]],"date-time":"2011-02-09T11:55:19Z","timestamp":1297252519000},"page":"688-695","source":"Crossref","is-referenced-by-count":14,"title":["Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel \u03b1-galactosidase A (GLA) deletions causing Fabry disease"],"prefix":"10.1155","volume":"32","author":[{"given":"Robert","family":"Dobrovolny","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Nazarenko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jungmin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Doheny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2011,3,29]]},"reference":[{"key":"10.1002\/humu.21474-BIB1|cit1","first-page":"227","article-title":"Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype\/phenotype correlations in severly and mildy affected hemizygotes and heterozygotes","volume":"48","author":"Ashton-Prolla","year":"2000","journal-title":"J Invest Med"},{"key":"10.1002\/humu.21474-BIB2|cit2","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1172\/JCI114027","article-title":"Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene","volume":"83","author":"Bernstein","year":"1989","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.21474-BIB3|cit3","doi-asserted-by":"crossref","first-page":"3903","DOI":"10.1073\/pnas.85.11.3903","article-title":"Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3\u2032 untranslated region","volume":"85","author":"Bishop","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.21474-BIB4|cit4","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.jmb.2005.02.043","article-title":"Alu retrotransposition-mediated deletion","volume":"348","author":"Callinan","year":"2005","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.21474-BIB5|cit5","first-page":"157","article-title":"Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes","volume":"81","author":"Desnick","year":"1973","journal-title":"J Lab Clin Med"},{"key":"10.1002\/humu.21474-BIB6|cit6","first-page":"3733","volume-title":"The metabolic and molecular basis of inherited disease","author":"Desnick","year":"2001"},{"key":"10.1002\/humu.21474-BIB7|cit7","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ygeno.2005.05.009","article-title":"Role of poly(A) tail length in Alu retrotransposition","volume":"86","author":"Dewannieux","year":"2005","journal-title":"Genomics"},{"key":"10.1002\/humu.21474-BIB8|cit8","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s00109-005-0656-2","article-title":"Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population","volume":"83","author":"Dobrovolny","year":"2005","journal-title":"J Mol Med"},{"key":"10.1002\/humu.21474-BIB9|cit9","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/BF03401671","article-title":"Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes","volume":"3","author":"Eng","year":"1997","journal-title":"Mol Med"},{"key":"10.1002\/humu.21474-BIB10|cit10","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.21474-BIB11|cit11","first-page":"1186","article-title":"Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease","volume":"53","author":"Eng","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21474-BIB12|cit12","first-page":"352","article-title":"Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease","volume":"126","author":"Ferreira","year":"2009","journal-title":"Hum Genet"},{"key":"10.1002\/humu.21474-BIB13|cit13","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/0006-291X(90)91273-U","article-title":"Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing","volume":"170","author":"Fukuhara","year":"1990","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.21474-BIB14|cit14","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease","volume":"18","author":"Germain","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"10.1002\/humu.21474-BIB15|cit15","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21474-BIB16|cit16","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/ng1416","article-title":"Detection of large-scale variation in the human genome","volume":"36","author":"Iafrate","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.21474-BIB17|cit17","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/339431","article-title":"Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype","volume":"70","author":"Ishii","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21474-BIB18|cit18","doi-asserted-by":"crossref","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","article-title":"Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene","volume":"265","author":"Kornreich","year":"1990","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.21474-BIB19|cit19","doi-asserted-by":"crossref","first-page":"3301","DOI":"10.1093\/nar\/17.8.3301","article-title":"Nucleotide sequence of the human alpha-galactosidase A gene","volume":"17","author":"Kornreich","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.21474-BIB20|cit20","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/978-1-60761-759-4_4","article-title":"Mulitplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH)","volume":"653","author":"Kousoulidou","year":"2010","journal-title":"Methods Mol Biol"},{"key":"10.1002\/humu.21474-BIB21|cit21","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1002\/humu.21474-BIB22|cit22","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1016\/j.jacc.2008.02.050","article-title":"Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results","volume":"51","author":"Linthorst","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1002\/humu.21474-BIB23|cit23","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0009-8981(81)90384-3","article-title":"Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease","volume":"112","author":"Mayes","year":"1981","journal-title":"Clin Chim Acta"},{"key":"10.1002\/humu.21474-BIB24|cit24","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int"},{"key":"10.1002\/humu.21474-BIB25|cit25","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.21474-BIB26|cit26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1111\/j.1468-1331.2006.01611.x","article-title":"Contribution of clinical screening to carrier detection in a large chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion","volume":"14","author":"Ro","year":"2007","journal-title":"Eur J Neurol"},{"key":"10.1002\/humu.21474-BIB27|cit27","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/humu.9172","article-title":"Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female","volume":"22","author":"Rodr\u00edquez-Mar\u00ed","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.21474-BIB28|cit28","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease: a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"key":"10.1002\/humu.21474-BIB29|cit29","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ymgme.2008.03.017","article-title":"Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)","volume":"94","author":"Schirinzi","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21474-BIB30|cit30","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations","volume":"2","author":"Shabbeer","year":"2006","journal-title":"Hum Genomics"},{"key":"10.1002\/humu.21474-BIB31|cit31","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S1096-7192(02)00012-4","article-title":"Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype","volume":"76","author":"Shabbeer","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21474-BIB32|cit32","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1001\/archopht.1979.01020010327008","article-title":"The ocular manifestations in Fabry's disease","volume":"97","author":"Sher","year":"1979","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.21474-BIB33|cit33","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ymgme.2009.11.001","article-title":"Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative","volume":"99","author":"Sirrs","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.21474-BIB34|cit34","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.21474-BIB35|cit35","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1186\/1479-7364-4-2-69","article-title":"The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics","volume":"4","author":"Stenson","year":"2009","journal-title":"Hum Genomics"},{"key":"10.1002\/humu.21474-BIB36|cit36","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1055\/s-2001-15398","article-title":"Skewed X inactivation in X-linked disorders","volume":"19","author":"Van den Veyver","year":"2001","journal-title":"Semin Reprod Med"},{"key":"10.1002\/humu.21474-BIB37|cit37","doi-asserted-by":"crossref","first-page":"658.e1","DOI":"10.1016\/j.amjmed.2009.12.022","article-title":"Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge","volume":"123","author":"Weidemann","year":"2010","journal-title":"Am J Med"},{"key":"10.1002\/humu.21474-BIB38|cit38","doi-asserted-by":"crossref","first-page":"2790","DOI":"10.1038\/sj.jid.5700924","article-title":"Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria","volume":"127","author":"Whatley","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1002\/humu.21474-BIB39|cit39","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1086\/422366","article-title":"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease","volume":"75","author":"Wilcox","year":"2004","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.21474","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.21474\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:26Z","timestamp":1672332746000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.21474"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,29]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.21474","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2011,3,29]]}}}