Spreafico M, Peyvandi F

Combined FV and FVIII deficiency.

Haemophilia 14:1201-8 (2008)
DOI:10.1111/j.1365-2516.2008.01845.x

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

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

Blood 111:5592-600 (2008)
DOI:10.1182/blood-2007-10-113951

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

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Blood 107:1903-7 (2006)
DOI:10.1182/blood-2005-09-3620

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

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Nat Genet 34:220-5 (2003)
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