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

doi:10.1002/(sici)1096-8652(199805)58:1<72::aid-ajh13>3.0.co;2-7

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Article

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

American journal of hematology - 1 May 1998

Chan V, Chan V W, Yip B, Chim C S, Chan T K

Abstract excerpt

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 ph...

Topics

Adult
Dosage Compensation, Genetic
Factor IX
Female
Hemophilia B
Heterozygote
Homozygote
Humans
Hypoxanthine Phosphoribosyltransferase
Mutation
Phenotype
Phosphoglycerate Kinase

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