Hemophilia B in a female carrier due to
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Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K.
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Article
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1998
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John Wiley and Sons
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English
β 234 KB
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A novel missense mutation (codon 351, GCT (Ala) β 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 phosphor