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Article

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

Molecular and cellular probes - 1 Apr 1995

Férec C, Novelli G, Verlingue C, Quéré I, Dallapiccola B, Audrézet M P, Mercier B

Abstract excerpt

The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding...

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Source

Identifiers

PMID: 7541510
DOI: 10.1016/s0890-8508(95)80038-7

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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