A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect-Reference-Cited by-同舟云学术

A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect

Published:2008-03 Issue:2 Volume:14 Page:394-395
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

WINTER P. C.,EGAN H.,MCNULTY O.,JONES F. G. C.,O’DONNELL J.,JENKINS P. V.

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2007.01639.x/fullpdf

Reference5 articles.

1. 1 The Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS), 2005 Available at http://europium.csc.mrc.ac.uk (last accessed 19.12.07).

2. MUTATIONS IN A SUBGROUP OF PATIENTS WITH MILD HAEMOPHILIA A AND A FAMILIAL DISCREPANCY BETWEEN THE ONE-STAGE AND TWO-STAGE FACTOR VIII:C METHODS

3. Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa

4. A Founder Factor VII Mutation, Valine 2016 to Alanine, in a Population with an Extraordinarily High Prevalence of Mild Hemophilia A

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