Genotype-phenotype correlation in combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutati...

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主要な著者: Zhang, Bin, Spreafico, Marta, Zheng, Chunlei, Yang, Angela, Platzer, Petra, Callaghan, Michael U., Avci, Zekai, Ozbek, Namik, Mahlangu, Johnny, Haw, Tabitha, Kaufman, Randal J., Marchant, Kandice, Tuddenham, Edward G. D., Seligsohn, Uri, Peyvandi, Flora, Ginsburg, David
フォーマット: Artigo
言語:Inglês
出版事項: American Society of Hematology 2008
主題:
Hemostasis, Thrombosis, and Vascular Biology
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2424156/
https://ncbi.nlm.nih.gov/pubmed/18391077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-10-113951
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