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Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity

✍ Scribed by Ozcelik, Tayfun; Uz, Elif; Akyerli, Cemaliye B; Bagislar, Sevgi; Mustafa, Chigdem A; Gursoy, Alptekin; Akarsu, Nurten; Toruner, Gokce; Kamel, Nuri; Gullu, Sevim


Book ID
110026617
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
132 KB
Volume
14
Category
Article
ISSN
1018-4813

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Hemophilia B in a female carrier due to
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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