{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:33Z","timestamp":1791279933820,"version":"4.1.0"},"reference-count":9,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"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":[[2008,2]]},"DOI":"10.1016\/j.nmd.2007.10.003","type":"journal-article","created":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T11:24:39Z","timestamp":1198668279000},"page":"146-149","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches"],"prefix":"10.1016","volume":"18","author":[{"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Rudnik-Sch\u00f6neborn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2007.10.003_bib1","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/S0960-8966(99)00016-4","article-title":"Workshop report. Spinal muscular atrophies: recent progress and revised diagnostic criteria","volume":"9","author":"Zerres","year":"1999","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.nmd.2007.10.003_bib2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterisation of a spinal muscular atrophy determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2007.10.003_bib3","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00439-002-0828-x","article-title":"Genetic testing ands risk assessment for spinal muscular atrophy (SMA)","volume":"111","author":"Ogino","year":"2002","journal-title":"Hum Genet"},{"key":"10.1016\/j.nmd.2007.10.003_bib4","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.2007.10.003_bib5","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 counselling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2007.10.003_bib6","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/sj.ejhg.5200667","article-title":"Best practice guidelines for molecular analysis in spinal muscular atrophy","volume":"9","author":"Scheffer","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2007.10.003_bib7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/sj.ejhg.5201268","article-title":"Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene","volume":"13","author":"Eggermann","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2007.10.003_bib8","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10048-006-0051-3","article-title":"Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification","volume":"7","author":"Scarciolla","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nmd.2007.10.003_bib9","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"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007377?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896607007377?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:55:50Z","timestamp":1760774150000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896607007377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["S0960896607007377"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2007.10.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2008,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2007.10.003","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"}]}}