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Article

Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2014

Liu H C, Shen M C, Eng H L, Wang C H, Lin T M

Abstract excerpt

Congenital factor V (FV) deficiency is a rare inherited disorder. We determined the mechanism of a missense mutation, Asp68His, in the A1 domain of the FV protein, is associated with severe FV deficiency. We characterized the mutant FV-Asp68His protein using in vitro expression studies by using specific secretion and degradation pathway inhibitors and analysed the intracellular translocation of the mutant protein...

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PMID: 24893683
DOI: 10.1111/hae.12476

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