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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1995-5-11
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0340-6717
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
447-50
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:7705844-Adult,
pubmed-meshheading:7705844-Amino Acid Sequence,
pubmed-meshheading:7705844-Base Sequence,
pubmed-meshheading:7705844-Enzyme Activation,
pubmed-meshheading:7705844-Female,
pubmed-meshheading:7705844-Humans,
pubmed-meshheading:7705844-Isoleucine,
pubmed-meshheading:7705844-Models, Molecular,
pubmed-meshheading:7705844-Molecular Sequence Data,
pubmed-meshheading:7705844-Point Mutation,
pubmed-meshheading:7705844-Polymerase Chain Reaction,
pubmed-meshheading:7705844-Pregnancy,
pubmed-meshheading:7705844-Protein C,
pubmed-meshheading:7705844-Protein C Deficiency,
pubmed-meshheading:7705844-Protein Folding,
pubmed-meshheading:7705844-Threonine
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pubmed:year |
1995
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pubmed:articleTitle |
A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.
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pubmed:affiliation |
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
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pubmed:publicationType |
Journal Article
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