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Article: Molecular genetic study of a childhood form of spinal muscular atrophy

TitleMolecular genetic study of a childhood form of spinal muscular atrophy
Authors
Issue Date2001
PublisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Citation
Journal Of Child Neurology, 2001, v. 16 n. 4, p. 291-294 How to Cite?
AbstractMolecular genetic studies were performed in 28 cases of childhoodonset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal muscular atrophy. Deletion of exons 5 and 6 of the NAIP gene was found in 3 of 5 (60%) of type 1 and none of the type 2 and 3 cases. None of the 32 asymptomatic relatives had homozygous deletions in the SMNt and NAIP genes. Thus, the role of the NAIP gene needs to be specifically defined in spinal muscular atrophy. In a suspected case of spinal muscular atrophy, deletion of the SMNt gene is a useful laboratory marker for confirmation of the diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/76357
ISSN
2015 Impact Factor: 1.434
2015 SCImago Journal Rankings: 0.694
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWong, Ven_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2010-09-06T07:20:22Z-
dc.date.available2010-09-06T07:20:22Z-
dc.date.issued2001en_HK
dc.identifier.citationJournal Of Child Neurology, 2001, v. 16 n. 4, p. 291-294en_HK
dc.identifier.issn0883-0738en_HK
dc.identifier.urihttp://hdl.handle.net/10722/76357-
dc.description.abstractMolecular genetic studies were performed in 28 cases of childhoodonset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal muscular atrophy. Deletion of exons 5 and 6 of the NAIP gene was found in 3 of 5 (60%) of type 1 and none of the type 2 and 3 cases. None of the 32 asymptomatic relatives had homozygous deletions in the SMNt and NAIP genes. Thus, the role of the NAIP gene needs to be specifically defined in spinal muscular atrophy. In a suspected case of spinal muscular atrophy, deletion of the SMNt gene is a useful laboratory marker for confirmation of the diagnosis.en_HK
dc.languageengen_HK
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.comen_HK
dc.relation.ispartofJournal of Child Neurologyen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAdulten_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGene Deletionen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMuscular Atrophy, Spinal - geneticsen_HK
dc.subject.meshNerve Tissue Proteins - geneticsen_HK
dc.subject.meshNeuronal Apoptosis-Inhibitory Proteinen_HK
dc.subject.meshPedigreeen_HK
dc.titleMolecular genetic study of a childhood form of spinal muscular atrophyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0883-0738&volume=16&issue=4&spage=291&epage=294&date=2001&atitle=Molecular+genetic+study+of+a+childhood+form+of+spinal+muscular+atrophyen_HK
dc.identifier.emailWong, V:vcnwong@hku.hken_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityWong, V=rp00334en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid11332465en_HK
dc.identifier.scopuseid_2-s2.0-0035005936en_HK
dc.identifier.hkuros59831en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035005936&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume16en_HK
dc.identifier.issue4en_HK
dc.identifier.spage291en_HK
dc.identifier.epage294en_HK
dc.identifier.isiWOS:000171025600012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWong, V=7202525632en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

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