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Article

Complete screening of the CFTR gene in Argentine cystic fibrosis patients.

Clinical genetics - 1 Mar 2002

Visich A, Zielenski J, Castaños C, Diez G, Grenoville M, Segal E, Barreiro C, Tsui L-C, Chertkoff L

Abstract excerpt

In order to establish the nature and the distribution of mutations causing cystic fibrosis (CF) in 220 unrelated Argentine families, the present authors conducted an extensive molecular analysis of the CF transmembrane regulator (CFTR) gene. First, a direct mutation analysis of 13 common mutations was done, enabling the detection of 319 out of 440 CF alleles (72.52%). Then an exhaustive screening of the entire...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12000363
DOI: 10.1034/j.1399-0004.2002.610307.x

Genes

CFTR

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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