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Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient |
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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 | |
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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. https://archive-ouverte.unige.ch/unige:8741 |