Article
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2012
Woods A I, Sanchez-Luceros A, Kempfer A C, Powazniak Y, Calderazzo Pereyra J C, Blanco A N, Meschengieser S S, Lazzari M A
Abstract excerpt
Most mutations identified in 2A VWD patients are localized in the A2 domain, although missense substitutions have also been recognized in the A1 domain. We describe a novel heterozygous missense mutation in the A1 domain of VWF gene responsible for type 2A phenotype. Analysis of the complete exon 28 was carried out in a patient and his mother with life-long histories of moderate to severe bleeding and laboratory...
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