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Article

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.

Genetic testing - 1 Jan 2003

Raskin Salmo, Pereira Lilian, Reis Francisco, Rosario Nelson A, Ludwig Norberto, Valentim Lairton, Phillips John A, Allito Bernice, Heim Ruth A, Sugarman Elaine A, Probst Christian M, Faucz Fabio, Culpi Lodercio

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To determine the frequency of 70 common worldwide CFTR mutations in 155 Euro-Brazilian CF patients and in 38 Afro-Brazilian C...

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Source

Identifiers

PMID: 14641997
DOI: 10.1089/109065703322537223

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14641997-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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