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Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.
Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D. Zhang B, et al. Among authors: yamaoka js. Blood. 2006 Mar 1;107(5):1903-7. doi: 10.1182/blood-2005-09-3620. Epub 2005 Nov 22. Blood. 2006. PMID: 16304051 Free PMC article.
pak2a mutations cause cerebral hemorrhage in redhead zebrafish.
Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D, Lyons SE. Buchner DA, et al. Among authors: yamaoka js. Proc Natl Acad Sci U S A. 2007 Aug 28;104(35):13996-4001. doi: 10.1073/pnas.0700947104. Epub 2007 Aug 22. Proc Natl Acad Sci U S A. 2007. PMID: 17715297 Free PMC article.