Article
A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene.
Thrombosis research - 1 Mar 2001
Nakahara M, Iida H, Urata M, Fujise M, Wakiyama M, Kinoshita S, Tsuda H, Okamura T, Yao K, Yao T, Hamasaki N
Abstract excerpt
Sequencing studies of the protein S gene (PROS1) in a Japanese patient suffering from recurrent thrombosis revealed the following. The proband and his first daughter, but not the second daughter, were having the type I protein S (PS) deficiency due to a novel point mutation from A to G at the intronic acceptor splice site in intron 13 of the PROS1. In the affected daughter, exclusion of the aberrant allele was...
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