Article
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.
Blood - 1 Apr 1999
Nichols W C, Terry V H, Wheatley M A, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch N B, Ruiz-Saez A, Torres A, Thompson A R, Feinstein D I, White G C, Negrier C, Vinciguerra C, Aktan M, Kaufman R J, Ginsburg D, Seligsohn U
Abstract excerpt
Combined factors V and VIII deficiency is an autosomal recessive bleeding disorder associated with plasma levels of coagulation factors V and VIII approximately 5% to 30% of normal. The disease gene was recently identified as the endoplasmic reticulum-Golgi intermediate compartment protein ERGIC-53 by positional cloning, with the detection of two founder mutations in 10 Jewish families. To identify mutations in...
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