Distribution of CFTR Mutations in Cystic Fibrosis Patients of Tunisian Origin: Identification of Two Novel Mutations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

1989 • 7,327 citations

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

1989 • 3,180 citations

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

1988 • 1,582 citations

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1991 • 550 citations

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

1990 • 433 citations

Population variation of common cystic fibrosis mutations

1994 • 312 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

Detection of over 98% cystic fibrosis mutations in a Celtic population

1992 • 185 citations

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

1992 • 92 citations

Identification of 12 novel mutations in the CFTR gene

1993 • 71 citations

Analysis of 14 cystic fibrosis mutations in five South European populations

1991 • 55 citations

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1993 • 45 citations

Anthropological approach to the heterogeneity of beta-thalassemia mutations in northern Africa.

1994 • 44 citations