Abstract
We describe the detection of a novel missense mutation (Thr176→Ile) that is located at the neo N-terminus of activated protein C. The Thr176→Ile substitution leads to a type 1 deficiency state. Evidence is presented suggesting that this residue plays a role in pivoting the N-terminus of protein C to fold into the oxyanion hole.
Original language | English |
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Pages (from-to) | 447-450 |
Number of pages | 4 |
Journal | Human Genetics |
Volume | 95 |
Issue number | 4 |
DOIs | |
Publication status | Published - Apr 1995 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics