Carrier detection in the hemophilias
β Scribed by Dr. D. P. Lillicrap; B. N. White; J. J. A. Holden; A. R. Giles
- Book ID
- 102700479
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 838 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
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Hemophilia is a recessive, hereditary disease linked to the X chromosome affecting primarily males, with the most common form being type A. The purpose of this investigation was to detect carriers related to hemophiliac patients identified in the northeastern part of Mexico. Twentyone families of he
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