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Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.
Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D. Zhang B, et al. Nat Genet. 2003 Jun;34(2):220-5. doi: 10.1038/ng1153. Nat Genet. 2003. PMID: 12717434
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. 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.
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D. Zhang B, et al. Blood. 2008 Jun 15;111(12):5592-600. doi: 10.1182/blood-2007-10-113951. Epub 2008 Apr 7. Blood. 2008. PMID: 18391077 Free PMC article.
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