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 sit...
Topics
- Adenine
- Base Sequence
- Binding Sites
- Catalysis
- Factor VII
- Female
- Genetic Variation
- Guanine
- Heterozygote
- Humans
- Middle Aged
- Molecular Sequence Data
- Mutation
- Protein Structure, Tertiary