𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients

✍ Scribed by P. CASAÑA; F. MARTÍNEZ; N. CABRERA; A. R. CID; J. A. AZNAR


Book ID
109152541
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
86 KB
Volume
6
Category
Article
ISSN
1538-7933

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Prevalence of small rearrangements in th
✍ Nadja Bogdanova; Arseni Markoff; Hartmut Pollmann; Ulrike Nowak-Göttl; Roswith E 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB

Hemophilia A is a common X-linked bleeding disorder caused by various types of mutations in the factor VIII gene F8C. The most common intron 22-inversion is responsible for about 40% of the severe hemophilia A cases while large deletions, point mutations and small (less than 100 bp) deletions or ins

Amino acid substitutions in conserved do
✍ Carol Diamond; Scott Kogan; Barbara Levinson; Jane Gitschier 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 863 KB

Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. To efficiently find missense mutations, hemophiliacs with mild and moderately severe forms of the disease were su