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Article

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2008

Alibakhshi Reza, Kianishirazi Roya, Cassiman Jean-Jacques, Zamani Mahdi, Cuppens Harry

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with over 1400 mutations identified in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Mutations in the CFTR gene may be also causative for CBAVD (Congenital Bilateral Absence of the Vas Deferens). The type and distribution of mutations varies widely between different countries and/or ethnic...

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Source

Identifiers

PMID: 17662673
DOI: 10.1016/j.jcf.2007.06.001

Genes

CFTR

Variants

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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