Title: Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations
Authors: Alibakhshi, Reza ×
Kianishirazi, Roya
Cassiman, Jean-Jacques
Zamani, Mahdi
Cuppens, Harry #
Issue Date: Mar-2008
Publisher: Elsevier science bv
Series Title: Journal of cystic fibrosis vol:7 issue:2 pages:102-109
Abstract: 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.
ISSN: 1569-1993
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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