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rdf:type |
|
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lifeskim:mentions |
umls-concept:C0001898,
umls-concept:C0040005,
umls-concept:C0071744,
umls-concept:C0079941,
umls-concept:C0086418,
umls-concept:C0205419,
umls-concept:C0442726,
umls-concept:C1413745,
umls-concept:C1413772,
umls-concept:C1511790,
umls-concept:C1882417
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|
pubmed:issue |
2
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|
pubmed:dateCreated |
1993-10-12
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|
pubmed:abstractText |
A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
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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 |
Sep
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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 |
92
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pubmed:geneSymbol |
CST3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
206-7
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:8103758-Alanine,
pubmed-meshheading:8103758-Alleles,
pubmed-meshheading:8103758-Base Sequence,
pubmed-meshheading:8103758-Cerebral Amyloid Angiopathy,
pubmed-meshheading:8103758-Chromosomes, Human, Pair 20,
pubmed-meshheading:8103758-Cystatin C,
pubmed-meshheading:8103758-Cystatins,
pubmed-meshheading:8103758-Deoxyribonucleases, Type II Site-Specific,
pubmed-meshheading:8103758-Gene Frequency,
pubmed-meshheading:8103758-Humans,
pubmed-meshheading:8103758-Molecular Sequence Data,
pubmed-meshheading:8103758-Point Mutation,
pubmed-meshheading:8103758-Polymerase Chain Reaction,
pubmed-meshheading:8103758-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:8103758-Threonine
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pubmed:year |
1993
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pubmed:articleTitle |
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism.
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pubmed:affiliation |
Department of Clinical Chemistry, University of Lund, University Hospital, Sweden.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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