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Article: Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

TitleBruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
Authors
Issue Date2000
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2000, v. 15 n. 4, p. 385 How to Cite?
AbstractBruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients from 8 families. Family 1 had a novel point mutation at the start codon (135G-->T) in exon 2. Family 2 had known mutation of single A insertion in a stretch of 7 A residues (341-347insA) recognized as mutation hotspot in exon 3. Family 3 had a novel point mutation in exon 11 (1074A-->G) which led to aberrant splicing. Family 4 had known mutation in exon 19 (2053C-->T) in CpG mutation hotspot. The novel mutation of family 5 was an A deleted in a run of three As (1017-1019delA) in exon 10. In family 6, exons 2 and 3 were lost in BTK mRNA, a novel deletion. Family 7 had a novel substitution in exon 2 (227T-->C) which led to change of a conserved leucine to serine. Family 8 had a novel point mutation at beginning of intron 14 (IVS14+ 6 T-->G) resulting in aberrant splicing. Hum Mutat 15:385, 2000. Copyright 2000 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/80177
ISSN
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorYip, KLen_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorIp, WKen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2010-09-06T08:03:17Z-
dc.date.available2010-09-06T08:03:17Z-
dc.date.issued2000en_HK
dc.identifier.citationHuman Mutation, 2000, v. 15 n. 4, p. 385en_HK
dc.identifier.issn1098-1004en_HK
dc.identifier.urihttp://hdl.handle.net/10722/80177-
dc.description.abstractBruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients from 8 families. Family 1 had a novel point mutation at the start codon (135G-->T) in exon 2. Family 2 had known mutation of single A insertion in a stretch of 7 A residues (341-347insA) recognized as mutation hotspot in exon 3. Family 3 had a novel point mutation in exon 11 (1074A-->G) which led to aberrant splicing. Family 4 had known mutation in exon 19 (2053C-->T) in CpG mutation hotspot. The novel mutation of family 5 was an A deleted in a run of three As (1017-1019delA) in exon 10. In family 6, exons 2 and 3 were lost in BTK mRNA, a novel deletion. Family 7 had a novel substitution in exon 2 (227T-->C) which led to change of a conserved leucine to serine. Family 8 had a novel point mutation at beginning of intron 14 (IVS14+ 6 T-->G) resulting in aberrant splicing. Hum Mutat 15:385, 2000. Copyright 2000 Wiley-Liss, Inc.en_HK
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.rightsHuman Mutation. Copyright © John Wiley & Sons, Inc.en_HK
dc.titleBruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1059-7794&volume=15&spage=385&epage=&date=2000&atitle=Bruton%27s+Tyrosine+Kinase+Mutations+in+8+Chinese+Families+with+X-Linked+Agammaglobulinemiaen_HK
dc.identifier.emailChan, SY:sychan@hkucc.hku.hken_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityChan, SY=rp00356en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid10737994-
dc.identifier.scopuseid_2-s2.0-0034164667en_HK
dc.identifier.hkuros48758en_HK
dc.identifier.volume15en_HK
dc.identifier.issue4en_HK
dc.identifier.spage385en_HK
dc.identifier.epage385en_HK
dc.identifier.isiWOS:000208376200011-
dc.identifier.scopusauthoridYip, KL=7101909909en_HK
dc.identifier.scopusauthoridChan, SY=7404255082en_HK
dc.identifier.scopusauthoridIp, WK=35083568800en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK

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