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

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 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

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

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

2013 • 2,504 citations

Isolation of High‐Molecular‐Weight DNA from Mammalian Cells

1973 • 1,723 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

A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS

1959 • 1,397 citations

Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transport

1990 • 1,149 citations

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

1991 • 1,108 citations

Long-Term Study of One Hundred Five Patients with Cystic Fibrosis

1958 • 1,014 citations

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1992 • 937 citations

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1991 • 689 citations

Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel

1991 • 658 citations

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

1988 • 636 citations

Signals for ribosomal frameshifting in the rous sarcoma virus gag-pol region

1988 • 617 citations

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

1991 • 550 citations

Nucleoside triphosphates are required to open the CFTR chloride channel

1991 • 520 citations

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

1991 • 508 citations

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

1991 • 498 citations

Oligonucleotide synthesis : a practical approach

1984 • 491 citations

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

1990 • 433 citations

Immunocytochemical localization of the cystic fibrosis gene product CFTR.

1991 • 419 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

The systematic evaluation of the chest radiograph in cystic fibrosis

1974 • 305 citations

Localization of the cystic fibrosis transmembrane conductance regulator in pancreas.

1991 • 296 citations

Effect of Deleting the R Domain on CFTR-Generated Chloride Channels

1991 • 271 citations

Localization of cystic fibrosis transmembrane conductance regulator in chloride secretory epithelia.

1992 • 240 citations

Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

1988 • 229 citations

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

1991 • 174 citations

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1990 • 140 citations

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

1991 • 139 citations

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

1991 • 117 citations

A frame-shift mutation in the cystic fibrosis gene

1990 • 107 citations

Quantitative expression patterns of multidrug‐resistance P‐glycoprotein (MDR1) and differentially spliced cystic‐fibrosis transmembrane‐conductance regulator mRNA transcripts in human epithelia

1992 • 97 citations

Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.

1988 • 77 citations

CFTR protein expression in primary and cultured epithelia.

1992 • 72 citations

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

1992 • 68 citations

A cross-species analysis of the cystic fibrosis transmembrane conductance regulator. Potential functional domains and regulatory sites.

1991 • 60 citations

Pancreatic function and gene deletion F508 in cystic fibrosis.

1990 • 58 citations

The structural requirements of substrates of cyclic AMP‐dependent protein kinase

1982 • 50 citations

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

1990 • 47 citations

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

1992 • 43 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

Rapid nonradioactive detection of the major CF mutation

1990 • 28 citations

A Cross-species Analysis of the Cystic Fibrosis Transmembrane Conductance Regulator

1991 • 12 citations