title: Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome.
abstract: A 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.
authors.affiliation: University Department of Medicine, Queen Mary Hospital, Hong Kong.
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: V W
authors.initials: VW
authors.lastname: Chan
authors.forename: B
authors.initials: B
authors.lastname: Yip
authors.forename: C S
authors.initials: CS
authors.lastname: Chim
authors.forename: T K
authors.initials: TK
authors.lastname: Chan
mesh_terms: D000328:Adult; D004303:Dosage Compensation, Genetic; D005164:Factor IX / Q000235:genetics; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010735:Phosphoglycerate Kinase / Q000235:genetics
chemical_list: D005164:Factor IX; D007041:Hypoxanthine Phosphoribosyltransferase; D010735:Phosphoglycerate Kinase