{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:54:58Z","timestamp":1791276898253,"version":"4.1.0"},"reference-count":57,"publisher":"Elsevier BV","issue":"9-10","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"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":[[2007,10]]},"DOI":"10.1016\/j.nmd.2007.05.005","type":"journal-article","created":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T07:45:21Z","timestamp":1184312721000},"page":"684-692","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["The molecular basis of Spinal Muscular Atrophy (SMA) in South African black patients"],"prefix":"10.1016","volume":"17","author":[{"given":"R.","family":"Labrum","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Rodda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Krause","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2007.05.005_bib1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.20111","article-title":"Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy","volume":"25","author":"Sun","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2007.05.005_bib2","series-title":"Muscle disorders in childhood","author":"Dubowitz","year":"1995"},{"key":"10.1016\/j.nmd.2007.05.005_bib3","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/345823a0","article-title":"Genetic homogeneity between acute and chronic forms of spinal muscular atrophy","volume":"345","author":"Gilliam","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2007.05.005_bib4","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2007.05.005_bib5","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy 5q11.2\u201313.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.nmd.2007.05.005_bib6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1006\/geno.1994.1220","article-title":"An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy","volume":"21","author":"Merette","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2007.05.005_bib7","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"},{"issue":"5","key":"10.1016\/j.nmd.2007.05.005_bib8","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<420::AID-AJMG5>3.0.CO;2-S","article-title":"Different molecular basis for spinal muscular atrophy in South African black patients","volume":"86","author":"Stevens","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib9","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":"5","author":"Brahe","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib10","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":"10.1016\/j.nmd.2007.05.005_bib11","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1006\/geno.1996.0147","article-title":"Structure and organisation of the human survival motor neurone (SMN) gene","volume":"32","author":"Burglen","year":"1996","journal-title":"Genomics"},{"issue":"5","key":"10.1016\/j.nmd.2007.05.005_bib12","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":"10.1016\/j.nmd.2007.05.005_bib13","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 heterozygotes and characterisation of novel intragenic SMN1 mutations","volume":"110","author":"Martin","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib14","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.2007.05.005_bib15","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jmg.35.8.674","article-title":"Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis","volume":"35","author":"Parsons","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib16","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":"Neurogenetics"},{"key":"10.1016\/j.nmd.2007.05.005_bib17","first-page":"27","article-title":"SMN tudor domain structure and its interaction with the Sm proteins","volume":"8","author":"Selenko","year":"2002","journal-title":"Nat Struct Biol"},{"key":"10.1016\/j.nmd.2007.05.005_bib18","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":"10.1016\/j.nmd.2007.05.005_bib19","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"},{"issue":"3","key":"10.1016\/j.nmd.2007.05.005_bib20","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":"10.1016\/j.nmd.2007.05.005_bib21","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0022-510X(01)00574-3","article-title":"Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families","volume":"190","author":"Tsai","year":"2001","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2007.05.005_bib22","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.2007.05.005_bib23","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2007.05.005_bib24","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1055\/s-2008-1071453","article-title":"Spinal muscular atrophy in African children","volume":"21","author":"Moosa","year":"1990","journal-title":"Neuropaediatrics"},{"key":"10.1016\/j.nmd.2007.05.005_bib25","first-page":"1057","article-title":"Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease","volume":"59","author":"Hahnen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib26","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"},{"issue":"3","key":"10.1016\/j.nmd.2007.05.005_bib27","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0960-8966(97)00450-1","article-title":"Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype","volume":"7","author":"Talbot","year":"1997","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2007.05.005_bib28","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1034\/j.1399-0004.2002.620210.x","article-title":"Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype","volume":"62","author":"Wilmshurst","year":"2002","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib29","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. 26\u201328 June 1992, Bonn, Germany","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2007.05.005_bib30","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.2007.05.005_bib31","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"},{"issue":"7","key":"10.1016\/j.nmd.2007.05.005_bib32","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1136\/jmg.33.7.550","article-title":"Accurate diagnosis of carriers of deletions and duplications in Duchenne\/Becker muscular dystrophy by fluorescent dosage analysis","volume":"33","author":"Yau","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib33","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/0888-7543(95)80220-G","article-title":"Organisation and sequence of the human P gene and identification of a new family of transport proteins","volume":"26","author":"Lee","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2007.05.005_bib34","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1093\/hmg\/2.8.1169","article-title":"High resolution physical map of the region surrounding the spinal muscular atrophy gene","volume":"8","author":"Thompson","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib35","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1093\/hmg\/2.10.1753","article-title":"Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681","volume":"10","author":"Morrison","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib36","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1159\/000154177","article-title":"Microsatellite polymorphisms for chromosome 5 bands q11.2\u2013q13.3","volume":"43","author":"Sherrington","year":"1993","journal-title":"Hum Hered"},{"key":"10.1016\/j.nmd.2007.05.005_bib37","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/geno.1993.1069","article-title":"Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B","volume":"15","author":"Soares","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2007.05.005_bib38","first-page":"520","article-title":"High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5","volume":"50","author":"Morrison","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib39","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.2007.05.005_bib40","first-page":"1503","article-title":"Molecular basis of spinal muscular atrophy in Chinese","volume":"57","author":"Chang","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib41","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib42","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1093\/hmg\/4.10.1927","article-title":"Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals","volume":"4","author":"Hahnen","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib43","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1136\/jmg.33.6.469","article-title":"Unusual molecular findings in autosomal recessive spinal muscular atrophy","volume":"33","author":"Matthijs","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib44","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1136\/jmg.33.2.93","article-title":"Gene deletions in spinal muscular atrophy","volume":"33","author":"Rodrigues","year":"1996","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib45","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1007\/s004390050253","article-title":"Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy","volume":"98","author":"Samilchuk","year":"1996","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib46","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1093\/hmg\/5.2.257","article-title":"Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype","volume":"5","author":"Velasco","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib47","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<51::AID-AJMG11>3.0.CO;2-T","article-title":"SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype\/phenotype correlations with disease severity","volume":"72","author":"Simard","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib48","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.33.4.281","article-title":"Large scale deletions of the 5q13 region are specific to Werdnig Hoffmann disease","volume":"33","author":"Burlet","year":"1996","journal-title":"J Med Genet"},{"issue":"11","key":"10.1016\/j.nmd.2007.05.005_bib49","first-page":"383","article-title":"Prevalence of albinism in the South African negro","volume":"61","author":"Kromberg","year":"1982","journal-title":"S Afr Med J"},{"issue":"1","key":"10.1016\/j.nmd.2007.05.005_bib50","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1034\/j.1399-0004.2001.590106.x","article-title":"The molecular basis of cystic fibrosis in South Africa","volume":"59","author":"Goldman","year":"2001","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2007.05.005_bib51","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":"10.1016\/j.nmd.2007.05.005_bib52","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/scientificamerican0477-106","article-title":"The spread of the Bantu languages","volume":"236","author":"Phillipson","year":"1997","journal-title":"Sci Am"},{"key":"10.1016\/j.nmd.2007.05.005_bib53","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1023\/A:1005491014280","article-title":"The molecular basis of transferase galactosaemia in South African negroids","volume":"22","author":"Manga","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2007.05.005_bib54","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s004390050400","article-title":"Oculocutaneous albinism (OCA2) in Sub-Saharan Africa: distribution of the common 2.7kb P gene mutation","volume":"99","author":"Stevens","year":"1997","journal-title":"Hum Genet"},{"issue":"1","key":"10.1016\/j.nmd.2007.05.005_bib55","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/jmg.36.1.41","article-title":"Cystic fibrosis carrier frequencies in populations of African origin","volume":"36","author":"Padoa","year":"1999","journal-title":"J Med Genet"},{"issue":"9","key":"10.1016\/j.nmd.2007.05.005_bib56","doi-asserted-by":"crossref","first-page":"3542","DOI":"10.1182\/blood-2004-10-3968","article-title":"A common Fanconi anemia mutation in black populations of sub-Saharan Africa","volume":"105","author":"Morgan","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.nmd.2007.05.005_bib57","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1086\/513913","article-title":"When is a deletion not a deletion, when is it converted?","volume":"61","author":"Burghes","year":"1997","journal-title":"Am J Hum Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607001691?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607001691?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:41Z","timestamp":1760774141000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896607001691"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10]]},"references-count":57,"journal-issue":{"issue":"9-10","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["S0960896607001691"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2007.05.005","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2007,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The molecular basis of Spinal Muscular Atrophy (SMA) in South African black patients","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2007.05.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}