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

Article Details

Citation

Chan V, Chan VW, Yip B, Chim CS, Chan TK

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

Am J Hematol. 1998 May;58(1):72-6.

PubMed ID
9590153 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Coagulation factor IXP00740Details