Article
Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
Blood - 15 Jul 2003
O'Brien Lee A, James Paula D, Othman Maha, Berber Ergul, Cameron Cherie, Notley Colleen R P, Hegadorn Carol A, Sutherland Jeffrey J, Hough Christine, Rivard Georges E, O'Shaunessey Denise, Lillicrap David
Abstract excerpt
To date, no dominant mutation has been identified in a significant proportion of patients with type 1 von Willebrand disease (VWD). In this study, we examined 70 families as part of the Canadian Type 1 VWD Study. The entire VWF gene was sequenced for 1 index case, revealing 2 sequence variations: intron 30 (5312-19A>C) and exon 28 at Tyr1584Cys (4751A>G). The Tyr1584Cys variation was identified in 14.3% (10 of...
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