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Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome

✍ Scribed by Stefan Kling; Alison J. Coffey; Rolf Ljung; Elsy Sjorin; Inga Marie Nilsson; Lars Holmberg; Francesco Giannelli


Book ID
114791500
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
840 KB
Volume
47
Category
Article
ISSN
0902-4441

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Hemophilia B in a female carrier due to
✍ 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