Article
Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency.
Annals of hematology - 1 May 2001
Dansako H, Ishimaru F, Takai Y, Tomoda J, Nakase K, Fujii K, Ogama Y, Kozuka T, Sezaki N, Honda K, Harada M
Abstract excerpt
Combined deficiency of factor V and factor VIII is a distinct clinical entity and is an autosomal recessive disorder. Recently identification of the gene, the endoplasmic reticulum-Golgi intermediate compartment (ERGIC-53), responsible for combined factor V-factor VIII deficiency and mutations of the ERGIC-53 gene in affected patients have been reported. In this report we analyzed two Japanese patients with...
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