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Article: Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing

TitleIdentification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing
Authors
Issue Date2006
PublisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1744-3121
Citation
International Journal Of Immunogenetics, 2006, v. 33 n. 3, p. 205-209 How to Cite?
AbstractX-linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B-cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with atypical phenotype resulting in a milder or late-onset form of the disease. The diagnosis allows accurate carrier detection with subsequent genetic counselling and prenatal diagnosis. In this study, long polymerase chain reaction (PCR)-direct sequencing analysis of the BTK gene in 12 unrelated Chinese XLA patients had been performed. Eight recurrent mutations and four novel mutations were identified. This is the first report of Chinese cases from three different East Asia regions together, including Hong Kong, Singapore and mainland China. Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype-phenotype correlations of BTK gene. © 2006 Blackwell Publishing Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/80001
ISSN
2015 Impact Factor: 1.174
2015 SCImago Journal Rankings: 0.536
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, KWen_HK
dc.contributor.authorChen, Ten_HK
dc.contributor.authorJiang, Len_HK
dc.contributor.authorFok, SFSen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorLee, BWen_HK
dc.contributor.authorYang, Xen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2010-09-06T08:01:14Z-
dc.date.available2010-09-06T08:01:14Z-
dc.date.issued2006en_HK
dc.identifier.citationInternational Journal Of Immunogenetics, 2006, v. 33 n. 3, p. 205-209en_HK
dc.identifier.issn1744-3121en_HK
dc.identifier.urihttp://hdl.handle.net/10722/80001-
dc.description.abstractX-linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B-cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with atypical phenotype resulting in a milder or late-onset form of the disease. The diagnosis allows accurate carrier detection with subsequent genetic counselling and prenatal diagnosis. In this study, long polymerase chain reaction (PCR)-direct sequencing analysis of the BTK gene in 12 unrelated Chinese XLA patients had been performed. Eight recurrent mutations and four novel mutations were identified. This is the first report of Chinese cases from three different East Asia regions together, including Hong Kong, Singapore and mainland China. Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype-phenotype correlations of BTK gene. © 2006 Blackwell Publishing Ltd.en_HK
dc.languageengen_HK
dc.publisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1744-3121en_HK
dc.relation.ispartofInternational Journal of Immunogeneticsen_HK
dc.rightsInternational Journal of Immunogenetics. Copyright © Blackwell Publishing Ltd.en_HK
dc.titleIdentification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencingen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1744-3121&volume=33&issue=3&spage=205&epage=209&date=2006&atitle=Identification+of+Bruton+tyrosine+kinase+mutations+in+12+Chinese+patients+with+X-linked+agammaglobulinaemia+by+long+PCR-direct+sequencingen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1744-313X.2006.00598.xen_HK
dc.identifier.pmid16712653-
dc.identifier.scopuseid_2-s2.0-33646857026en_HK
dc.identifier.hkuros116621en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33646857026&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume33en_HK
dc.identifier.issue3en_HK
dc.identifier.spage205en_HK
dc.identifier.epage209en_HK
dc.identifier.isiWOS:000238051900012-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridChen, T=35285506000en_HK
dc.identifier.scopusauthoridJiang, L=35285772300en_HK
dc.identifier.scopusauthoridFok, SFS=7005182792en_HK
dc.identifier.scopusauthoridLee, TL=8508917400en_HK
dc.identifier.scopusauthoridLee, BW=7405437980en_HK
dc.identifier.scopusauthoridYang, X=13606095400en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.citeulike662216-

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