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Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

โœ Scribed by Esther M. Maier; Stefan Kammerer; Ania C. Muntau; Maria Wichers; Andreas Braun; Adelbert A. Roscher

Book ID
101464137
Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
197 KB
Volume
52
Category
Article
ISSN
0364-5134

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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