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Article: Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome

TitleHemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome
Authors
Issue Date1998
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, 1998, v. 58 n. 1, p. 72-76 How to Cite?
AbstractA novel missense mutation (codon 351, GCT (Ala) → CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5' end of the hypoxanthine phosphoribosyltransferase gene showed that skewed inactivation of the X chromosome carrying her normal FIX gene accounted for the hemophilia phenotype.
Persistent Identifierhttp://hdl.handle.net/10722/77469
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorChan, VWYen_HK
dc.contributor.authorYip, Ben_HK
dc.contributor.authorChim, CSen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:32:14Z-
dc.date.available2010-09-06T07:32:14Z-
dc.date.issued1998en_HK
dc.identifier.citationAmerican Journal Of Hematology, 1998, v. 58 n. 1, p. 72-76en_HK
dc.identifier.issn0361-8609en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77469-
dc.description.abstractA novel missense mutation (codon 351, GCT (Ala) → CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. She is heterozygous for the FIX mutation inherited from her carrier mother. Analysis of the methyl-sensitive Hpa II sites at the 5' end of the hypoxanthine phosphoribosyltransferase gene showed that skewed inactivation of the X chromosome carrying her normal FIX gene accounted for the hemophilia phenotype.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/35105en_HK
dc.relation.ispartofAmerican Journal of Hematologyen_HK
dc.rightsAmerican Journal of Hematology. Copyright © John Wiley & Sons, Inc.en_HK
dc.subject.meshAdulten_HK
dc.subject.meshDosage Compensation, Geneticen_HK
dc.subject.meshFactor IX - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHemophilia B - geneticsen_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshHomozygoteen_HK
dc.subject.meshHumansen_HK
dc.subject.meshHypoxanthine Phosphoribosyltransferase - geneticsen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshPhenotypeen_HK
dc.subject.meshPhosphoglycerate Kinase - geneticsen_HK
dc.titleHemophilia B in a female carrier due to skewed inactivation of the normal X-chromosomeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0361-8609&volume=58&spage=72&epage=76&date=1998&atitle=Hemophilia+B+in+a+female+carrier+due+to+skewed+inactivation+of+the+normal+X-chromosomeen_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.emailChim, CS:jcschim@hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityChim, CS=rp00408en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/(SICI)1096-8652(199805)58:1<72::AID-AJH13>3.0.CO;2-7en_HK
dc.identifier.pmid9590153-
dc.identifier.scopuseid_2-s2.0-0031947539en_HK
dc.identifier.hkuros37187en_HK
dc.identifier.hkuros44889-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031947539&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume58en_HK
dc.identifier.issue1en_HK
dc.identifier.spage72en_HK
dc.identifier.epage76en_HK
dc.identifier.isiWOS:000073441500013-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridChan, VWY=36896382500en_HK
dc.identifier.scopusauthoridYip, B=16685586100en_HK
dc.identifier.scopusauthoridChim, CS=7004597253en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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