Article
Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 1996
Zheng D Q, Shurafa M, James H L
Abstract excerpt
An individual identified as having a dysfunctional factor VII was studied to seek underlying genetic defects. A heterozygous mutation in the factor VII gene exon 8 was identified as substitution of A for G at nucleotide position 10,909 [Gly331(GGC) to Asp (GAC)]. An abolished MspI restriction site was used to confirm heterozygosity for the defect. The mutation occurs within the substrate-binding pocket at a locus...
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