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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1992-9-29
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pubmed:abstractText |
A novel homozygous CCC----CTC (Pro 247----Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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|
pubmed:issn |
0340-6717
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
89
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
683-4
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1511988-Base Sequence,
pubmed-meshheading:1511988-Exons,
pubmed-meshheading:1511988-Female,
pubmed-meshheading:1511988-Homozygote,
pubmed-meshheading:1511988-Humans,
pubmed-meshheading:1511988-Molecular Sequence Data,
pubmed-meshheading:1511988-Mutation,
pubmed-meshheading:1511988-Pedigree,
pubmed-meshheading:1511988-Polymerase Chain Reaction,
pubmed-meshheading:1511988-Protein C,
pubmed-meshheading:1511988-Recurrence,
pubmed-meshheading:1511988-Thrombophlebitis
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|
pubmed:year |
1992
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|
pubmed:articleTitle |
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
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pubmed:affiliation |
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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