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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.
Barakat, Wadad
Sayad, A. E.
Published in Thrombosis and Haemostasis. 2006, vol. 95, no. 5, p. 893-895
Keywords Child, PreschoolCodon, NonsenseConsanguinityFactor V Deficiency/etiology/ geneticsFemaleHemophilia A/etiology/ geneticsHeterozygoteHumansMannose-Binding Lectins/ geneticsMembrane Proteins/ geneticsPedigree
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PMID: 16676083
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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. https://archive-ouverte.unige.ch/unige:8741

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Deposited on : 2010-07-12

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