Paraboschi, E M

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. [electronic resource] - Haemophilia : the official journal of the World Federation of Hemophilia Mar 2012 - 205-10 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1365-2516

10.1111/j.1365-2516.2011.02621.x doi


Factor V--genetics
Factor V Deficiency--genetics
Frameshift Mutation--genetics
Humans
Infant
Male
Mutation, Missense--genetics
Sequence Analysis, DNA