Detection of 95 novel mutations in coagulation factor VIII geneF8responsible for hemophilia A: results from a single institution-Reference-Cited by-同舟云学术

Detection of 95 novel mutations in coagulation factor VIII geneF8responsible for hemophilia A: results from a single institution

Published:2006-07 Issue:7 Volume:27 Page:676-685
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Guillet Benoît,Lambert Thierry,d'Oiron Roseline,Proulle Valérie,Plantier Jean-Luc,Rafowicz Anne,Peynet Jocelyne,Costa Jean-Marc,Bendelac Laurence,Laurian Yves,Lavergne Jean-Maurice

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference47 articles.

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2. The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII;Amano;Blood,1998

3. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group;Antonarakis;Hum Mutat,1998

4. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002

5. Factor IXa:factor VIIIa interaction Helix 330-338 of factor IXa interacts with residues 558-565 and spatially adjacent regions of the a2 subunit of factor VIIIa;Bajaj;J Biol Chem,2001

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