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Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C→T mutation

✍ Scribed by A. SHARATHKUMAR; B. HARDESTY; A. GREIST; J. SALTER; B. KERLIN; M. HEIMAN; M. SULKIN; A. SHAPIRO


Book ID
108773099
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
123 KB
Volume
15
Category
Article
ISSN
1351-8216

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T296→M, a common mutation causing mild h
✍ Rhett P. Ketterling; Cynthia D. K. Bottema; Dwight D. Koeberl; Setsuko Ii; Steve 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 565 KB

By direct genomic sequencing, we have delineated the causative mutation in 64 families of European decent with hemophilia B. Six (9%) had a C----T transition at base 31008, which substitutes methionine for threonine 296 (T296----M) in the catalytic domain of factor IX. Five of the patients had the s