{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:18:17Z","timestamp":1790968697831,"version":"4.1.0"},"reference-count":41,"publisher":"Hindawi Limited","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4456,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"Premi Ferrer Salat"},{"name":"Telemarat\u00f3 Malalties Hereditaries","award":["98\/810"],"award-info":[{"award-number":["98\/810"]}]},{"name":"Fondo de Investigaci\u00f3n Sanitaria","award":["00-481"],"award-info":[{"award-number":["00-481"]}]},{"name":"Fondo de Investigaci\u00f3n Sanitaria","award":["02-1275"],"award-info":[{"award-number":["02-1275"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2003,8]]},"DOI":"10.1002\/humu.10245","type":"journal-article","created":{"date-parts":[[2003,7,15]],"date-time":"2003-07-15T10:09:08Z","timestamp":1058263748000},"page":"136-143","source":"Crossref","is-referenced-by-count":42,"title":["A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene"],"prefix":"10.1155","volume":"22","author":[{"given":"Ivon","family":"Cusc\u00f3","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Soler-Botija","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Jes\u00fas Barcel\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Baiget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2003,6,20]]},"reference":[{"key":"10.1002\/humu.10245-BIB1|cit1","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1093\/hmg\/5.12.1971","article-title":"Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I","volume":"12","author":"Brahe","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB2|cit2","doi-asserted-by":"crossref","first-page":"2351","DOI":"10.1093\/hmg\/8.13.2351","article-title":"Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy","volume":"8","author":"B\u00fchler","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB3|cit3","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion? When it is converted","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB4|cit4","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","article-title":"Structure and organization of the human survival motor neurone (SMN) gene","volume":"32","author":"B\u00fcrglen","year":"1996a","journal-title":"Genomics"},{"key":"10.1002\/humu.10245-BIB5|cit5","first-page":"S39","volume-title":"A novel point mutation in the SMN gene in a patient with type III spinal muscular atrophy. First congress of the world muscle society","author":"B\u00fcrglen","year":"1996b"},{"key":"10.1002\/humu.10245-BIB6|cit6","first-page":"72","article-title":"The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werding-Hoffman disease","volume":"60","author":"B\u00fcrglen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB7|cit7","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng1195-335","article-title":"A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients","volume":"11","author":"Bussaglia","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.10245-BIB8|cit8","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1086\/513886","article-title":"Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype","volume":"61","author":"Campbell","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB9|cit9","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1006\/geno.1997.5141","article-title":"Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP","volume":"48","author":"Chen","year":"1998","journal-title":"Genomics"},{"key":"10.1002\/humu.10245-BIB10|cit10","first-page":"A329","article-title":"Mutation analysis of the SMN gene in undeleted SMA patients. Annual meeting of the American society of human genetics","volume":"61","author":"Clermont","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB11|cit11","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1002\/humu.10144","article-title":"Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene","volume":"20","author":"Cusco","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10245-BIB12|cit12","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10245-BIB13|cit13","first-page":"1218","article-title":"Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy","volume":"55","author":"DiDonato","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB14|cit14","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0014-5793(01)02330-4","article-title":"Overexpressed human survival motor neurone isoforms, SMN\u0394exon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmatic distribution","volume":"495","author":"Dodds","year":"2001","journal-title":"FEBS"},{"key":"10.1002\/humu.10245-BIB15|cit15","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB16|cit16","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/ana.410440522","article-title":"Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene","volume":"44","author":"Gambardella","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1002\/humu.10245-BIB17|cit17","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1006\/bbrc.1995.2135","article-title":"Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients","volume":"213","author":"Gennarelli","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.10245-BIB18|cit18","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1093\/hmg\/6.5.821","article-title":"Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)","volume":"6","author":"Hahnen","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB19|cit19","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0022-510X(99)00325-1","article-title":"Analysis of mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients","volume":"173","author":"Jong","year":"2000","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.10245-BIB20|cit20","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1002\/humu.10245-BIB21|cit21","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/9.2.259","article-title":"An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN","volume":"9","author":"Lorson","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB22|cit22","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00439-002-0681-y","article-title":"Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygous and characterisation of novel intragenic SMN1 mutations","volume":"110","author":"Mart\u00edn","year":"2002","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10245-BIB23|cit23","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1086\/515465","article-title":"Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number","volume":"60","author":"McAndrew","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB24|cit24","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.7910982","article-title":"De novo and inherited deletions of the 5q13 region in spinal muscular atrophies","volume":"3","author":"Melki","year":"1994","journal-title":"Science"},{"key":"10.1002\/humu.10245-BIB25|cit25","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.10245-BIB26|cit26","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"Meeting report: international SMA consortium meeting","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscular Disorders"},{"key":"10.1002\/humu.10245-BIB27|cit27","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1093\/hmg\/5.11.1727","article-title":"An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene","volume":"5","author":"Parsons","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB28|cit28","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jmg.35.8.674","article-title":"Diagnosis of spinal muscular atrophy in a SMN non-deletion patient using a quantitative PCR screen and mutation analysis","volume":"35","author":"Parsons","year":"1998a","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10245-BIB29|cit29","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","article-title":"Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotypes by cenSMN copy number","volume":"63","author":"Parsons","year":"1998b","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB30|cit30","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0968-0004(96)30049-2","article-title":"Tudor domains in proteins that interact with RNA","volume":"22","author":"Ponting","year":"1997","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/humu.10245-BIB31|cit31","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s100480050021","article-title":"Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7","volume":"1","author":"Rochette","year":"1997","journal-title":"Neurogenet"},{"key":"10.1002\/humu.10245-BIB32|cit32","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0092-8674(95)90461-1","article-title":"The gene for neuronal apoptosis inhibitory protein in partially deleted in individuals with spinal muscular atrophy","volume":"80","author":"Roy","year":"1995","journal-title":"Cell"},{"key":"10.1002\/humu.10245-BIB33|cit33","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1007\/s004390100497","article-title":"Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA","volume":"108","author":"Skordis","year":"2001","journal-title":"Hum Genet"},{"key":"10.1002\/humu.10245-BIB34|cit34","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/sj.ejhg.5200599","article-title":"Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype","volume":"9","author":"Sossi","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.10245-BIB35|cit35","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/6.3.497","article-title":"Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism","volume":"6","author":"Talbot","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.10245-BIB36|cit36","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/sj.ejhg.5200210","article-title":"Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy","volume":"6","author":"Taylor","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.10245-BIB37|cit37","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy (letter)","volume":"345","author":"van der Steege","year":"1995","journal-title":"Lancet"},{"key":"10.1002\/humu.10245-BIB38|cit38","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s100480050040","article-title":"Identification of a novel missense mutation of the SMNt gene in two siblings with spinal muscular atrophy","volume":"1","author":"Wang","year":"1998","journal-title":"Neurogenet"},{"key":"10.1002\/humu.10245-BIB39|cit39","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"6","author":"Wirth","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10245-BIB40|cit40","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.10245-BIB41|cit41","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy (SMA)-clinical analysis of 445 patients and suggestions for modification of existing classifications","volume":"52","author":"Zerres","year":"1995","journal-title":"Arch Neurol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10245","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:50:36Z","timestamp":1672332636000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10245"}},"subtitle":["GENOTYPE-PHENOTYPE ANALYSIS IN SMN1"],"short-title":[],"issued":{"date-parts":[[2003,6,20]]},"references-count":41,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10245","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2003,6,20]]}}}