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Article

CFTR gene: molecular analysis in patients from South Brazil.

Molecular genetics and metabolism - 1 Apr 2003

Streit Carla, Burlamaque-Neto Antônio Carlos, de Abreu e Silva Fernando, Giugliani Roberto, Saraiva Pereira Maria Luiza

Abstract excerpt

Cystic fibrosis (CF) is the most common genetic disease among Caucasians. The CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR), codifies a protein that acts as a channel through the epithelial membrane. The present work aimed (1) to detect sequence alterations in the nucleotide binding regions and at the membrane spanning domain of the CFTR gene and (2) to detect the following frequent...

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Source

Identifiers

PMID: 12706377
DOI: 10.1016/s1096-7192(03)00033-7

Genes

CFTR

Variants

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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