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Page 1
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. Among authors: peyvandi f. 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.
Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.
Montefusco MC, Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. Montefusco MC, et al. Among authors: peyvandi f. Blood. 2003 Nov 1;102(9):3210-6. doi: 10.1182/blood-2003-03-0922. Epub 2003 Jun 19. Blood. 2003. PMID: 12816860 Free article.
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: peyvandi f. 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.
Rare bleeding disorders.
Peyvandi F, Kaufman RJ, Seligsohn U, Salomon O, Bolton-Maggs PH, Spreafico M, Menegatti M, Palla R, Siboni S, Mannucci PM. Peyvandi F, et al. Haemophilia. 2006 Jul;12 Suppl 3:137-42. doi: 10.1111/j.1365-2516.2006.01271.x. Haemophilia. 2006. PMID: 16684009 Free article. Review.
760 results