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Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B

โœ Scribed by K. OKUMURA; Y. FUJIMORI; A. TAKAGI; T. MURATE; M. OZEKI; K. YAMAMOTO; A. KATSUMI; T. MATSUSHITA; T. NAOE; T. KOJIMA


Book ID
111754539
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
224 KB
Volume
14
Category
Article
ISSN
1351-8216

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Hemophilia B in a female carrier due to
โœ Chan, Vivian; Chan, V. Wan Yin; Yip, Ben; Chim, C. S.; Chan, T. K. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 234 KB ๐Ÿ‘ 2 views

A novel missense mutation (codon 351, GCT (Ala) โ†’ 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