Article
[Molecular genetic analysis of 2 Chilean cystic fibrosis patients and their families].
Revista medica de Chile - 1 Jan 1994
Ríos J, Orellana O, Riveros N
Abstract excerpt
As a contribution to establish the real incidence of cystic fibrosis (CF) and the prevalent mutations in the Chilean population a method for the detection of delta F-508 and R-553X, two of the most frequent mutations described worldwide, has been implemented. The method is based on the polymerase chain reaction (PCR) amplification of DNA followed by allele specific restriction enzymatic digestion. The application...
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