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Article: A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A

TitleA novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A
Authors
Chan, VChan, TKTong, TMFTodd, D
Issue Date1989
PublisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Citation
Blood, 1989, v. 74 n. 8, p. 2688-2691 How to Cite?
AbstractA new point mutation due to C → T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishers the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.
Persistent Identifierhttp://hdl.handle.net/10722/161774
ISSN
0006-4971
2021 Impact Factor: 25.476
2020 SCImago Journal Rankings: 5.515
ISI Accession Number ID
WOS:A1989CB88100012

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorTong, TMFen_US
dc.contributor.authorTodd, Den_US
dc.date.accessioned2012-09-05T05:14:51Z-
dc.date.available2012-09-05T05:14:51Z-
dc.date.issued1989en_US
dc.identifier.citationBlood, 1989, v. 74 n. 8, p. 2688-2691en_US
dc.identifier.issn0006-4971en_US
dc.identifier.urihttp://hdl.handle.net/10722/161774-
dc.description.abstractA new point mutation due to C → T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishers the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.en_US
dc.languageengen_US
dc.publisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/en_US
dc.relation.ispartofBlooden_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDna Probesen_US
dc.subject.meshExonsen_US
dc.subject.meshFactor Viii - Geneticsen_US
dc.subject.meshGene Amplificationen_US
dc.subject.meshHemophilia A - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutationen_US
dc.subject.meshRestriction Mappingen_US
dc.titleA novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia Aen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid2510835-
dc.identifier.scopuseid_2-s2.0-0024316820en_US
dc.identifier.volume74en_US
dc.identifier.issue8en_US
dc.identifier.spage2688en_US
dc.identifier.epage2691en_US
dc.identifier.isiWOS:A1989CB88100012-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridTong, TMF=36784431000en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US
dc.identifier.issnl0006-4971-

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