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Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation

Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation

Blood Coagulation and Fibrinolysis 19(1): 92-94

A 26-year-old man who had a history of recurrent spontaneous nasal bleeding was admitted to our hospital with uncontrolled traumatic subdural hemorrhage. His plasma factor VII activity was less than 10% of normal. DNA sequence analysis revealed that the proband had a compound heterozygote for a novel nonsense mutation (F7 NM_000131.2 c.345C > A; p.Cys115X) in exon 4 encoding the EGF1 domain and a known missense mutation (F7 NM_000131.2 c.1027G > A; p.Gly343Ser) in exon 8 encoding the serine protease domain of F7. The same F7 Gly343Ser mutation was present in the asymptomatic father, who exhibited a modest reduction in the plasma level of factor VII activity (48%).

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Accession: 052269140

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PMID: 18180623

DOI: 10.1097/mbc.0b013e3282f185ed

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