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Page 1
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: minoldo s. 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.
Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.
Smith N, Bornikova L, Noetzli L, Guglielmone H, Minoldo S, Backos DS, Jacobson L, Thornburg CD, Escobar M, White-Adams TC, Wolberg AS, Manco-Johnson M, Di Paola J. Smith N, et al. Among authors: minoldo s. Res Pract Thromb Haemost. 2018 Jul 2;2(4):800-811. doi: 10.1002/rth2.12127. eCollection 2018 Oct. Res Pract Thromb Haemost. 2018. PMID: 30349899 Free PMC article.