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Article: Two factor XI mutations in a Chinese family with factor XI deficiency

TitleTwo factor XI mutations in a Chinese family with factor XI deficiency
Authors
Issue Date2003
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105
Citation
American Journal Of Hematology, 2003, v. 74 n. 2, p. 136-138 How to Cite?
AbstractWe describe a Chinese family with factor XI deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713 → T mutation resulting in Gln263 → Term, and an exon-10 C979 → A mutation resulting in Tyr351 → Term. Two daughters were heterozygous for the Gln263 → Term mutation and two for the Try351 → Term mutation. All showed a reduction of factor XI activity to about 50%. The Gln263 → Term mutation has been described in two Japanese families, and it remains to be determined whether a common founder exists between the three kindreds. The Try351 → Term mutation is novel. © 2003 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/162723
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAu, WYen_US
dc.contributor.authorCheung, JWen_US
dc.contributor.authorLam, CCKen_US
dc.contributor.authorKwong, YLen_US
dc.date.accessioned2012-09-05T05:22:47Z-
dc.date.available2012-09-05T05:22:47Z-
dc.date.issued2003en_US
dc.identifier.citationAmerican Journal Of Hematology, 2003, v. 74 n. 2, p. 136-138en_US
dc.identifier.issn0361-8609en_US
dc.identifier.urihttp://hdl.handle.net/10722/162723-
dc.description.abstractWe describe a Chinese family with factor XI deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713 → T mutation resulting in Gln263 → Term, and an exon-10 C979 → A mutation resulting in Tyr351 → Term. Two daughters were heterozygous for the Gln263 → Term mutation and two for the Try351 → Term mutation. All showed a reduction of factor XI activity to about 50%. The Gln263 → Term mutation has been described in two Japanese families, and it remains to be determined whether a common founder exists between the three kindreds. The Try351 → Term mutation is novel. © 2003 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105en_US
dc.relation.ispartofAmerican Journal of Hematologyen_US
dc.rightsAmerican Journal of Hematology. Copyright © John Wiley & Sons, Inc.-
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBase Sequence - Geneticsen_US
dc.subject.meshBlood Coagulation Testsen_US
dc.subject.meshCodon - Geneticsen_US
dc.subject.meshFactor Xi - Geneticsen_US
dc.subject.meshFactor Xi Deficiency - Blood - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshPedigreeen_US
dc.titleTwo factor XI mutations in a Chinese family with factor XI 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.doi10.1002/ajh.10396en_US
dc.identifier.pmid14508802-
dc.identifier.scopuseid_2-s2.0-0141730297en_US
dc.identifier.hkuros87923-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0141730297&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume74en_US
dc.identifier.issue2en_US
dc.identifier.spage136en_US
dc.identifier.epage138en_US
dc.identifier.isiWOS:000185612900010-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridAu, WY=7202383089en_US
dc.identifier.scopusauthoridCheung, JW=7202072282en_US
dc.identifier.scopusauthoridLam, CCK=16947291300en_US
dc.identifier.scopusauthoridKwong, YL=7102818954en_US

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