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Article

Complete detection of mutations in cystic fibrosis patients of Native American origin.

Human genetics - 1 Dec 1994

Mercier B, Raguénès O, Estivill X, Morral N, Kaplan G C, McClure M, Grebe T A, Kessler D, Pignatti P F, Marigo C

Abstract excerpt

An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the entire coding sequence of the CFTR gene in eight Pueblo CF patients. We have identified four...

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

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Source

Identifiers

PMID: 7527370
DOI: 10.1007/BF00206956

Genes

CFTR

Variants

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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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