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Norma B. de Bosch
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Journal Articles

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

Clinical Trials & Observations
Bin Zhang, Beth McGee, Jennifer S. Yamaoka, Hugo Guglielmone, Katharine A. Downes, Salvador Minoldo, Gustavo Jarchum, Flora Peyvandi, Norma B. de Bosch, Arlette Ruiz-Saez, Bernard Chatelain, Marian Olpinski, Paula Bockenstedt, Wolfgang Sperl, Randal J. Kaufman, William C. Nichols, Edward G. D. Tuddenham, David Ginsburg
Journal: Blood
Blood (2006) 107 (5): 1903–1907.
https://doi.org/10.1182/blood-2005-09-3620
Published: 2006
Journal Articles

Mutations in LMAN1 and MCFD2 May Account for All Cases of Combined Deficiency of Factor V and Factor VIII.

Bin Zhang, PhD, Beth McGee, BS, William C. Nichols, PhD, Hugo Guglielmone, M.Sc, Katherine Downes, MD, Flora Peyvandi, MD, Norma B. de Bosch, MD, Arlette Ruiz-Saez, MD, Bernard Chatelain, MD, Marian Olpinski, MD, Paula Bockenstedt, MD, Wolfgang Sperl, MD, Randal J. Kaufman, PhD, David Ginsburg, MD
Journal: Blood
Blood (2005) 106 (11): 724.
https://doi.org/10.1182/blood.V106.11.724.724
Published: 2005
Journal Articles

ERGIC-53 Gene Structure and Mutation Analysis in 19 Combined Factors V and VIII Deficiency Families

William C. Nichols, Valeri H. Terry, Matthew A. Wheatley, Angela Yang, Ariella Zivelin, Nicola Ciavarella, Caterina Stefanile, Tadashi Matsushita, Hidehiko Saito, Norma B. de Bosch, Arlette Ruiz-Saez, Argimiro Torres, Arthur R. Thompson, Donald I. Feinstein, Gilbert C. White, Claude Negrier, Christine Vinciguerra, Melih Aktan, Randal J. Kaufman, David Ginsburg, Uri Seligsohn
Journal: Blood
Blood (1999) 93 (7): 2261–2266.
https://doi.org/10.1182/blood.V93.7.2261
Published: 1999