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- Publisher Website: 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU21>3.0.CO;2-D
- Scopus: eid_2-s2.0-0034164667
- PMID: 10737994
- WOS: WOS:000208376200011
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Article: Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
Title | Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. |
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Authors | |
Issue Date | 2000 |
Publisher | John 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? |
Abstract | Bruton'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 Identifier | http://hdl.handle.net/10722/80177 |
ISSN | 2021 Impact Factor: 4.700 2020 SCImago Journal Rankings: 1.981 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Yip, KL | en_HK |
dc.contributor.author | Chan, SY | en_HK |
dc.contributor.author | Ip, WK | en_HK |
dc.contributor.author | Lau, YL | en_HK |
dc.date.accessioned | 2010-09-06T08:03:17Z | - |
dc.date.available | 2010-09-06T08:03:17Z | - |
dc.date.issued | 2000 | en_HK |
dc.identifier.citation | Human Mutation, 2000, v. 15 n. 4, p. 385 | en_HK |
dc.identifier.issn | 1098-1004 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/80177 | - |
dc.description.abstract | Bruton'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.language | eng | en_HK |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515 | en_HK |
dc.relation.ispartof | Human mutation | en_HK |
dc.rights | Human Mutation. Copyright © John Wiley & Sons, Inc. | en_HK |
dc.title | Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+Agammaglobulinemia | en_HK |
dc.identifier.email | Chan, SY:sychan@hkucc.hku.hk | en_HK |
dc.identifier.email | Lau, YL:lauylung@hkucc.hku.hk | en_HK |
dc.identifier.authority | Chan, SY=rp00356 | en_HK |
dc.identifier.authority | Lau, YL=rp00361 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU21>3.0.CO;2-D | - |
dc.identifier.pmid | 10737994 | - |
dc.identifier.scopus | eid_2-s2.0-0034164667 | en_HK |
dc.identifier.hkuros | 48758 | en_HK |
dc.identifier.volume | 15 | en_HK |
dc.identifier.issue | 4 | en_HK |
dc.identifier.spage | 385 | en_HK |
dc.identifier.epage | 385 | en_HK |
dc.identifier.isi | WOS:000208376200011 | - |
dc.identifier.scopusauthorid | Yip, KL=7101909909 | en_HK |
dc.identifier.scopusauthorid | Chan, SY=7404255082 | en_HK |
dc.identifier.scopusauthorid | Ip, WK=35083568800 | en_HK |
dc.identifier.scopusauthorid | Lau, YL=7201403380 | en_HK |
dc.identifier.issnl | 1059-7794 | - |