A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis
M Lucarelli, SM Bruno, S Pierandrei, G Ferraguti… - Molecular …, 2015 - Springer
Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship …
transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship …
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 …
sequencing regions encompassing exons 1–8, including the 5′ untranslated leader. Two of …
The role of common single‐nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles
B Steiner, K Truninger, J Sanz, A Schaller… - Human …, 2004 - Wiley Online Library
Classic cystic fibrosis (CF) is caused by two loss‐of‐function mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF …
transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF …
A mutation in CFTR produces different phenotypes depending on chromosomal background
S Kiesewetter, M Macek Jr, C Davis, SM Curristin… - Nature …, 1993 - nature.com
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene but the association between mutation (genotype) and disease presentation …
(CFTR) gene but the association between mutation (genotype) and disease presentation …
Two frameshift mutations in the cystic fibrosis gene
MC Iannuzzi, RC Stern, FS Collins, CT Hon… - American journal of …, 1991 - ncbi.nlm.nih.gov
Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane
conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations …
conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations …
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance …
V Faa, F Incani, A Meloni, D Corda, M Masala… - Journal of Biological …, 2009 - ASBMB
Cystic fibrosis (CF) is a common recessive disorder caused by> 1600 mutations in the CF
transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are …
transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are …
Genetic, cell biological, and clinical interrogation of the CFTR mutation c. 3700 A> G (p. Ile1234Val) informs strategies for future medical intervention
SV Molinski, T Gonska, LJ Huan, B Baskin… - Genetics in …, 2014 - nature.com
Purpose: The purpose of this study was to determine the molecular consequences of the
variant c. 3700 A> G in the cystic fibrosis transmembrane conductance regulator (CFTR) …
variant c. 3700 A> G in the cystic fibrosis transmembrane conductance regulator (CFTR) …
Amplification of CFTR exon 9 sequences to multiple locations in the human genome
R Rozmahel, HHQ Heng, AMV Duncan, XM Shi… - Genomics, 1997 - Elsevier
Cloning and characterization of the cystic fibrosis transmembrane conductance regulator
(CFTR) gene led to the identification and isolation of cDNA and genomic sequences that …
(CFTR) gene led to the identification and isolation of cDNA and genomic sequences that …
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci
S Quemener, JM Chen, N Chuzhanova… - Human …, 2010 - Wiley Online Library
Over the last 20 years since the discovery of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations …
regulator (CFTR) gene, more than 1,600 different putatively pathological CFTR mutations …
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
MP Audrézet, JM Chen, O Raguénes… - Human …, 2004 - Wiley Online Library
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance
regulator gene (CFTR/ABCC7). Despite the extensive and enduring efforts of many CF …
regulator gene (CFTR/ABCC7). Despite the extensive and enduring efforts of many CF …