Population variation of common cystic fibrosis mutations

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.

1990 • 433 citations

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1990 • 397 citations

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1990 • 353 citations

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1992 • 274 citations

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1992 • 179 citations

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

1991 • 174 citations

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

1990 • 120 citations

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

1991 • 117 citations

The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences

1991 • 115 citations

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

1993 • 99 citations

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1993 • 73 citations

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1992 • 65 citations

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

1993 • 59 citations

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G

1994 • 58 citations

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

1991 • 47 citations

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

1992 • 47 citations

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

1993 • 47 citations

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

1992 • 43 citations

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death

1991 • 41 citations

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)1

1991 • 37 citations

Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations

1993 • 30 citations

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1992 • 29 citations

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1992 • 24 citations

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations

1994 • 24 citations

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

1992 • 23 citations

A Deletion Mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Locus: DeltaI507

1991 • 20 citations

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations

1993 • 18 citations

A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island

1992 • 16 citations

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients

1992 • 16 citations

A New Mutation in the CFTR Gene, Composed of Two Adjacent DNA Alterations, Is a Common Cause of Cystic Fibrosis among Georgian Jews

1993 • 15 citations

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

1992 • 15 citations

A novel mutation in exon 3 of the CFTR gene

1993 • 14 citations

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

1992 • 12 citations

Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent

1993 • 10 citations

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population

1992 • 8 citations