{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:35Z","timestamp":1791279935995,"version":"4.1.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2007,6]]},"DOI":"10.1016\/j.nmd.2007.03.003","type":"journal-article","created":{"date-parts":[[2007,5,2]],"date-time":"2007-05-02T10:37:24Z","timestamp":1178102244000},"page":"476-481","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":34,"title":["Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy"],"prefix":"10.1016","volume":"17","author":[{"given":"Eva","family":"Zapletalov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Hedvi\u010d\u00e1kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Libor","family":"Koz\u00e1k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Vondr\u00e1\u010dek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Gaillyov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tat\u2019\u00e1na","family":"Ma\u0159\u0131\u00b4kov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zden\u011bk","family":"Kalina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u011bra","family":"J\u00fcttnerov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u0131\u00b4","family":"Fajkus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Fajkusov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2007.03.003_bib1","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":"264","author":"Melki","year":"1994","journal-title":"Science"},{"key":"10.1016\/j.nmd.2007.03.003_bib2","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/sj.ejhg.5201288","article-title":"New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations","volume":"12","author":"Ogino","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2007.03.003_bib3","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":"10.1016\/j.nmd.2007.03.003_bib4","doi-asserted-by":"crossref","first-page":"11167","DOI":"10.1073\/pnas.96.20.11167","article-title":"SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins","volume":"96","author":"Pellizzoni","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2007.03.003_bib5","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":"Burglen","year":"1996","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2007.03.003_bib6","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2007.03.003_bib7","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":"10.1016\/j.nmd.2007.03.003_bib8","doi-asserted-by":"crossref","first-page":"45387","DOI":"10.1074\/jbc.M105059200","article-title":"Characterization of functional domains of the SMN protein in vivo","volume":"276","author":"Wang","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2007.03.003_bib9","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 (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2007.03.003_bib10","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":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2007.03.003_bib11","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2007.03.003_bib12","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/humu.20092","article-title":"Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations","volume":"24","author":"Clermont","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2007.03.003_bib13","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 phenotype by cenSMN copy number","volume":"63","author":"Parsons","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.03.003_bib14","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\u2013phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.03.003_bib15","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/humu.10221","article-title":"Determination of SMN1 and SMN2 copy number using TaqMan technology","volume":"22","author":"Anhuf","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2007.03.003_bib16","doi-asserted-by":"crossref","first-page":"17372","DOI":"10.1073\/pnas.0508947102","article-title":"Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins","volume":"102","author":"Shpargel","year":"2005","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607000843?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607000843?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:04Z","timestamp":1760774104000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896607000843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6]]},"references-count":16,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["S0960896607000843"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2007.03.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2007,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2007.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}