| Autor: |
Zheng Dq, James Hl, Shurafa M |
| Rok vydání: |
1996 |
| Předmět: |
|
| Zdroj: |
Blood Coagulation & Fibrinolysis. 7:93-96 |
| ISSN: |
0957-5235 |
| DOI: |
10.1097/00001721-199601000-00012 |
| Popis: |
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 on the surface of the factor VII molecule containing a protein-protein interactive site for substrates, providing an explanation for the observed dysfunctional procoagulant activity. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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