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Article: Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.

TitleIdentification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.
Authors
KeywordsWiskott-Aldrich syndrome
WAS
WASP
Immunodeficiency
Mutation analysis
Issue Date2002
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2002, v. 20 n. 2, p. 151-152 How to Cite?
AbstractThe Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C-->T, 1388-->T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP. Copyright 2002 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/48650
ISSN
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorChan, KWen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorChung, BHen_HK
dc.contributor.authorYang, Xen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2008-05-22T04:20:10Z-
dc.date.available2008-05-22T04:20:10Z-
dc.date.issued2002en_HK
dc.identifier.citationHuman Mutation, 2002, v. 20 n. 2, p. 151-152en_HK
dc.identifier.issn1098-1004en_HK
dc.identifier.urihttp://hdl.handle.net/10722/48650-
dc.description.abstractThe Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C-->T, 1388-->T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP. Copyright 2002 Wiley-Liss, Inc.en_HK
dc.format.extent816412 bytes-
dc.format.extent91637 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515en_HK
dc.relation.ispartofHuman mutationen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.en_HK
dc.subjectWiskott-Aldrich syndromeen_HK
dc.subjectWASen_HK
dc.subjectWASPen_HK
dc.subjectImmunodeficiencyen_HK
dc.subjectMutation analysisen_HK
dc.titleIdentification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=20&issue=2&spage=151&epage=152&date=2002&atitle=Identification+of+five+novel+WASP+mutations+in+Chinese+families+with+Wiskott-Aldrich+syndromeen_HK
dc.identifier.emailChung, BH:bhychung@hku.hken_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityChung, BH=rp00473en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturepostprinten_HK
dc.identifier.doi10.1002/humu.9048en_HK
dc.identifier.pmid12124997-
dc.identifier.scopuseid_2-s2.0-0036676884en_HK
dc.identifier.hkuros75710-
dc.identifier.volume20en_HK
dc.identifier.issue2en_HK
dc.identifier.spage151en_HK
dc.identifier.epage152en_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridChung, BH=7203043997en_HK
dc.identifier.scopusauthoridYang, X=13606095400en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK

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