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Article

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.

Clinical genetics - 1 Sept 2007

Faucz F R, Gimenez J, Ramos M D, Pereira-Ferrari L, Estivill X, Raskin S, Casals T, Culpi L

Abstract excerpt

Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were to analyze the molecular aspects of CFTR gene characterizing mutations, their frequencies, and the haplotypes formed by four CFTR gene intragenic markers, IVS8-6(T)n, IVS8CA, IVS17bTA and IVS17bCA, in a southern Brazilian population of Caucasian origin. DNA...

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Source

Identifiers

PMID: 17718859
DOI: 10.1111/j.1399-0004.2007.00854.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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