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Article

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation.

American journal of medical genetics. Part A - 1 Feb 2005

Polizzi Angela, Francavilla Ruggiero, Castaldo Giuseppe, Santostasi Teresa, Tomaiuolo Rossella, Manca Antonio, De Robertis Francesco, Mappa Luigi, Oliverio Francesca Paola, Salvatore Francesco, Rigillo Nicola

Abstract excerpt

Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with a frequency of 3.5%. We have screened, by reverse dot blot, denaturing gradient gel electrophoresis (DGGE), and gene...

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Identifiers

PMID: 15633186
DOI: 10.1002/ajmg.a.30493

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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