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Article

A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

Blood - 15 Jun 1996

Arbini A A, Mannucci M, Bauer K A

Abstract excerpt

We elucidated the genetic basis responsible for factor VII deficiency in an Italian woman with a severe bleeding diathesis. In the allele inherited from the patient's father, we identified a G to A mutation at nucleotide 6070 at the 5' splice site of intron 4 and a G to A substitution at nucleotide 10976 resulting in the Arg353Gln polymorphism. The maternal allele demonstrated a C to T substitution at nucleotide...

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PMID: 8652821

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