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Article: Two novel factor VII gene mutations in a Chinese family with factor VII deficiency

TitleTwo novel factor VII gene mutations in a Chinese family with factor VII deficiency
Authors
Issue Date2000
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal Of Haematology, 2000, v. 111 n. 1, p. 143-145 How to Cite?
AbstractWe report two novel factor VII (FVII) gene mutations in a Chinese family with FVII deficiency. The proband, a 55-year-old woman, was incidentally found to have right shoulder arthritis consistent with chronic haemophilic arthropathy. FVII studies showed a FVII activity of 0.02 iu/ml and a FVII antigen of 49%. Molecular analysis showed a double heterozygous state, with an exon 4 nonsense mutation (C6003→A; Cys61→Term) and an exon 8 missense mutation (T10902→G; Cys329→Gly) that disrupted a Cys310/Cys329 disulphide bond. The genotypes and phenotypes were correlated in the patient's daughters. Two daughters were heterozygous for the Cys61→Term mutation and showed a type 1 FVII gene mutation phenotype consistent with a nonsense mutation. One daughter was heterozygous for the Csy329→Gly mutation and showed a type 2 mutation phenotype consistent with a missense mutation. These are the first reported FVII gene mutations in the Chinese people.
Persistent Identifierhttp://hdl.handle.net/10722/162376
ISSN
2015 Impact Factor: 5.401
2015 SCImago Journal Rankings: 2.313
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAu, WYen_US
dc.contributor.authorLam, CCKen_US
dc.contributor.authorChan, ECen_US
dc.contributor.authorKwong, YLen_US
dc.date.accessioned2012-09-05T05:19:23Z-
dc.date.available2012-09-05T05:19:23Z-
dc.date.issued2000en_US
dc.identifier.citationBritish Journal Of Haematology, 2000, v. 111 n. 1, p. 143-145en_US
dc.identifier.issn0007-1048en_US
dc.identifier.urihttp://hdl.handle.net/10722/162376-
dc.description.abstractWe report two novel factor VII (FVII) gene mutations in a Chinese family with FVII deficiency. The proband, a 55-year-old woman, was incidentally found to have right shoulder arthritis consistent with chronic haemophilic arthropathy. FVII studies showed a FVII activity of 0.02 iu/ml and a FVII antigen of 49%. Molecular analysis showed a double heterozygous state, with an exon 4 nonsense mutation (C6003→A; Cys61→Term) and an exon 8 missense mutation (T10902→G; Cys329→Gly) that disrupted a Cys310/Cys329 disulphide bond. The genotypes and phenotypes were correlated in the patient's daughters. Two daughters were heterozygous for the Cys61→Term mutation and showed a type 1 FVII gene mutation phenotype consistent with a nonsense mutation. One daughter was heterozygous for the Csy329→Gly mutation and showed a type 2 mutation phenotype consistent with a missense mutation. These are the first reported FVII gene mutations in the Chinese people.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.-
dc.subject.meshChina - Ethnologyen_US
dc.subject.meshFactor Vii - Geneticsen_US
dc.subject.meshFactor Vii Deficiency - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.subject.meshPoint Mutationen_US
dc.titleTwo novel factor VII gene mutations in a Chinese family with factor VII deficiencyen_US
dc.typeArticleen_US
dc.identifier.emailKwong, YL:ylkwong@hku.hken_US
dc.identifier.authorityKwong, YL=rp00358en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1046/j.1365-2141.2000.02332.xen_US
dc.identifier.pmid11091194-
dc.identifier.scopuseid_2-s2.0-0033764855en_US
dc.identifier.hkuros59923-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033764855&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume111en_US
dc.identifier.issue1en_US
dc.identifier.spage143en_US
dc.identifier.epage145en_US
dc.identifier.isiWOS:000165511700019-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridAu, WY=7202383089en_US
dc.identifier.scopusauthoridLam, CCK=16947291300en_US
dc.identifier.scopusauthoridChan, EC=7401994120en_US
dc.identifier.scopusauthoridKwong, YL=7102818954en_US

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