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A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C

Hallam, P. J., Wacey, A. I., Mannucci, P. M., Legnani, C., Kuhnau, W., Krawczak, M., Kakkar, V. and Cooper, David Neil 1995. A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C. Human Genetics 95 (4) , pp. 447-450. 10.1007/bf00208974

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: Springer Verlag
ISSN: 0340-6717
Last Modified: 04 Jun 2017 06:32
URI: http://orca.cf.ac.uk/id/eprint/61774

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