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Article

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

Genetic testing - 1 Jan 2000

Bernardino A L, Ferri A, Passos-Bueno M R, Kim C E, Nakaie C M, Gomes C E, Damaceno N, Zatz M

Abstract excerpt

We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of...

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

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Identifiers

PMID: 10794365
DOI: 10.1089/109065700316516

Genes

CFTR

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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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