Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.

Abstract excerpt

Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified by automated sequencing in one type 2A vWD Spanish patient. To detect this new candidate mutation a modified primer...

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