Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding …

P Fanen, N Ghanem, M Vidaud, C Besmond, J Martin… - Genomics, 1992 - Elsevier
The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using
denaturing gradiert gel electrophoresis to screen the entire coding regiors and adjacent …

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis

M Vidaud, P Fanen, J Martin, N Ghanem, S Nicolas… - Human Genetics, 1990 - Springer
The cystic fibrosis (CF) gene was recently identified as a gene spanning 250 kilobases (kbp)
and coding for a 1480 amino acid protein, cystic fibrosis transmembrane conductance …

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

T Dörk, F Mekus, K Schmidt, J Boßhammer, R Fislage… - Human genetics, 1994 - Springer
We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in
350 German CF patients. A screening approach based on single-strand conformation …

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

CM Strom, D Huang, C Chen, A Buller, M Peng… - Genetics in …, 2003 - nature.com
Purpose: To develop a sequencing assay for the CFTR gene to identify mutations in patients
with cystic fibrosis (CF). Methods: An automated assay format was developed to sequence …

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

J Zielenski, D Bozon, B Kerem, D Markiewicz, P Durie… - Genomics, 1991 - Elsevier
Five different mutations have been identified in the gene causing cystic fibrosis (CF) through
sequencing regions encompassing exons 1–8, including the 5′ untranslated leader. Two of …

The cystic fibrosis gene: a molecular genetic perspective

LC Tsui, R Dorfman - Cold Spring Harbor …, 2013 - perspectivesinmedicine.cshlp.org
The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

M Claustres, M Laussel, M Desgeorges… - Human molecular …, 1993 - academic.oup.com
In order to characterize the non-ΔF508 mutations that account for 36% of cystic fibrosis (CF)
chromosomes In Southern France in a sample of 137 patients, we have systematically …

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

T Onay, O Topaloglu, J Zielenski, N Gokgoz… - Human genetics, 1998 - Springer
In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population,
a complete coding region of the cystic fibrosis transmembrane conductance regulator …

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic …

LC Tsui - Human mutation, 1992 - Wiley Online Library
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since
the description of the major mutation of this disease in 1989, over 150 of additional …

Population variation of common cystic fibrosis mutations

JP Cheadle - Human Mutation, 1994 - orca.cardiff.ac.uk
Since the identification of the gene and the major mutation responsible for cystic fibrosis
(CF) in 1989, more than 400 presumed mutations and about 90 DNA sequence variations …