Linked Life Data

1325679

Source:http://linkedlifedata.com/resource/pubmed/id/1325679

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-10-6
pubmed:abstractText
We have investigated the molecular basis of antithrombin deficiency in 3 individuals, 2 of whom had a proven family history of thromboembolic disease. An approximate 50% reduction in functional and immunologic levels of antithrombin was detected in plasma from the propositi indicating an allelic deficiency of antithrombin. In each case direct sequencing of amplified DNA revealed a novel mutation involving single bases: two being insertions, of a T in codon 48 and an A in codon 208, and the third being the deletion of an A in codon 370. The three mutations, which were confirmed by cloning and sequencing the normal and variant alleles, all caused frameshifts leading to premature termination of protein translation. In no case could a truncated antithrombin be detected in plasma from the propositus suggesting either that it fails to be secreted, or is rapidly degraded.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6245
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
521-5
pubmed:dateRevised
2010-8-25
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression.
pubmed:affiliation
Department of Haematology, MRC Centre, Cambridge, England.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't