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

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1988 • 7,933 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

Update on Key Emerging Challenges in Cystic Fibrosis

2014 • 3,606 citations

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

1989 • 3,180 citations

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

2013 • 2,504 citations

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

1991 • 550 citations

First Course in Population Genetics

1976 • 541 citations

Identification of the cystic fibrosis gene.

1990 • 509 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

Modification of enzymatic-ally amplified DNA for the detection of point mutations

1989 • 330 citations

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype

1990 • 128 citations

CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

1991 • 102 citations

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

1991 • 88 citations

Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1992 • 80 citations

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1992 • 72 citations

Analysis of 14 cystic fibrosis mutations in five South European populations

1991 • 55 citations

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

1990 • 51 citations

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

1992 • 31 citations

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1992 • 30 citations

Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families

1990 • 17 citations

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

1991 • 12 citations

Précis d'histoire ancienne

1967 • 2 citations