Article
Identification and frequencies of cystic fibrosis mutations in central Argentina.
Clinical biochemistry - 1 Jan 2016
Pepermans Xavier, Mellado Soledad, Chialina Sergio, Wagener Marta, Gallardo Liliana, Lande Hilda, Bordino Walter, Baran Daniel, Bours Vincent, Leal Teresinha
Abstract excerpt
BACKGROUND: The Argentinian population is mainly of Caucasian origin, with a small contingent of indigenous descent. The aim of this study is to test the hypothesis that a panel of mutations designed for European countries is not optimal as a first-line molecular diagnosis for routine use in this country of mixed European origin. METHODS: Phenotype analyses combined with a European screening panel of 71 mutations...
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