Article
FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.
Human heredity - 1 Jan 2003
Gandhi Manish J, Cummings Carrie L, Drachman Jonathan G
Abstract excerpt
The gene for a novel nonsyndromic autosomal dominant thrombocytopenia has been previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number *188000). This disorder is characterized by moderate thrombocytopenia and incomplete differentiation of megakaryocytes. We report here a nov...
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