Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

Author:

Lannoy N.,Lambert C.,Vikkula M.,Hermans C.

Publisher

Elsevier BV

Subject

Hematology

Reference16 articles.

1. Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy;Acquila;Haematologica,2004

2. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study;Antonarakis SE and the international consortium study;Blood,1995

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

4. The CpG dinucleotide and human genetic disease;Cooper;Hum Genet,1988

5. Microsatellites: simple sequences with complex evolution;Ellegren;Nat Rev Genet,2004

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