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An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism

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Author

Summary, in English

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.

Publishing year

1993

Language

English

Pages

206-207

Publication/Series

Human Genetics

Volume

92

Issue

2

Document type

Journal article

Publisher

Springer

Topic

  • Medical Genetics

Status

Published

ISBN/ISSN/Other

  • ISSN: 1432-1203