"Founder" effect in different families with haemophilia B mutation

Author:

Thompson ArthurR,Bajaj S.Paul,Chen Shi-Han,Macgillivray R.T.A

Publisher

Elsevier BV

Subject

General Medicine

Reference10 articles.

1. Ar Thompson, Molecular biology of the hemophilias, Prog Hemostas Thrombos ((in press)).

2. A moderate form of hemophilia B is caused by a novel mutation in the protease domain of factor IX-Vancouver;Geddes;J Biol Chem,1989

3. Genetic defect responsible for the dysfunctional protein: factor IX-Long Beach;Ware;Blood,1988

4. Sg Spitzer, Bj Warn-Cramer, Ck Kasper, Sp Bajaj, Replacement of 397 Ile by Thr in the clotting protease factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but non L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox-brain prothrombin time and the mutation site in the variant proteins, Biochem J ((in press)).

5. Detection of polymorphisms at cytosine phosphoguanidine dinucleotides and diagnosis of haemophilia B carriers;Winship;Lancet,1989

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