Article
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay.
Thrombosis research - 1 Apr 2015
Luan Chun-jie, Shen Wei, Yu Zhen, Chen Lei, Gu Yi, Tang Lin-yun, Wang Zhu-gang, Dai Letian, Gu Ming-min
Abstract excerpt
INTRODUCTION: Protein C deficiency is a genetic disorder caused by mutations in the protein C gene (PROC). More than 10% of nonsense and frameshift mutations carrying premature termination codons have been identified in PROC, but the exact molecular mechanisms of these mutations on the pathogenesis of protein C deficiency remain unclear. OBJECTIVE: The aim of this study is to investigate whether nonsense-mediated...
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