Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient

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Title		Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient
Authors		Farah, R. A. De Moerloose, Philippe Bouchardy, Isabelle Morris, Michael Andréw Barakat, Wadad Sayad, A. E. Neerman Arbez, Marguerite
Published in		Thrombosis and Haemostasis. 2006, vol. 95, no. 5, p. 893-895
Keywords		Child, Preschool — Codon, Nonsense — Consanguinity — Factor V Deficiency/etiology/ genetics — Female — Hemophilia A/etiology/ genetics — Heterozygote — Humans — Mannose-Binding Lectins/ genetics — Membrane Proteins/ genetics — Pedigree
Identifiers		DOI: 10.1160/th06-01-0051 PMID: 16676083
Full text		Article - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine
Citation (ISO format)		FARAH, R. A. et al. Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. In: Thrombosis and Haemostasis, 2006, vol. 95, n° 5, p. 893-895. doi: 10.1160/th06-01-0051 https://archive-ouverte.unige.ch/unige:8741

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Deposited on : 2010-07-12

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