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

Tijdschriftbijdrage - Tijdschriftartikel

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 groups, and is relatively unknown in Iran. We therefore performed a comprehensive analysis of the CFTR gene in Iranian CF patients.
Tijdschrift: Journal of Cystic Fibrosis
ISSN: 1569-1993
Issue: 2
Volume: 7
Pagina's: 102 - 109
Jaar van publicatie:2008
BOF-keylabel:ja
IOF-keylabel:ja
BOF-publication weight:1
CSS-citation score:2
Auteurs:International
Authors from:Higher Education