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Hemophilia A in chromosomal female subjects

✍ Scribed by Jeanne M. Lusher; Wolf W. Zuelzer; Ruth K. Evans

Book ID
118535737
Publisher
Elsevier Science
Year
1969
Tongue
English
Weight
491 KB
Volume
74
Category
Article
ISSN
1097-6833

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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