| Literature DB >> 8103758 |
M Balbín1, A Grubb, M Abrahamson.
Abstract
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.Entities:
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Year: 1993 PMID： 8103758 DOI： 10.1007/bf00219694
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132