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Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

✍ Scribed by Renault, Nisa K; Dyack, Sarah; Dobson, Melanie J; Costa, Teresa; Lam, Wan L; Greer, Wenda L

Book ID
110026900
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
294 KB
Volume
15
Category
Article
ISSN
1018-4813

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✍ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 234 KB πŸ‘ 2 views

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