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Article

CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2009

Spinelli Elide, Seia Manuela, Melotti Paola, Marchina Eleonora, Padoan Rita

Abstract excerpt

Cystic fibrosis (CF; MIM# 219700) is the most frequent recessive disease in Caucasian patients. However, immigration from the Middle East and Africa to Europe is revealing different CFTR mutations. Here, we have described an 875+1G-->A mutation, found for the first time in a homozygous state in an 8 yr old boy. He was the child of a couple of Egyptian first level cousins, both carriers of the mutation. The...

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Source

Identifiers

PMID: 19481507
DOI: 10.1016/j.jcf.2009.05.003

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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