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Article

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

Human genetics - 1 Sept 1993

Balbín M, Grubb A, Abrahamson M

Abstract excerpt

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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Source

Identifiers

PMID: 8103758
DOI: 10.1007/BF00219694

Genes

CST3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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