Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

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

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

2013 • 2,504 citations

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1989 • 2,480 citations

Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells

1986 • 1,903 citations

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1990 • 1,756 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

A comparison of survival, growth, and pulmonary function in patients with cystic fibrosis in Boston and Toronto

1988 • 797 citations

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

1990 • 706 citations

The yeast STE6 gene encodes a homologue of the mammalian multidrug resistance P-glycoprotein

1989 • 604 citations

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

1990 • 576 citations

Nucleotide sequence of an Escherichia coli chromosomal hemolysin

1985 • 572 citations

Amplification of the multidrug resistance gene in some chloroquine-resistant isolates of P. falciparum

1989 • 570 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

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

1990 • 397 citations

The 70-kDa peroxisomal membrane protein is a member of the Mdr (P-glycoprotein)-related ATP-binding protein superfamily.

1990 • 395 citations

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1990 • 386 citations

Complete nucleotide sequence and identification of membrane components of the histidine transport operon of S. typhimurium

1982 • 322 citations

RELATIVE UNDERWEIGHT IN CYSTIC FIBROSIS AND ITS PROGNOSTIC VALUE

1978 • 321 citations

DNA sequence of the white locus of Drosophila melanogaster

1984 • 282 citations

Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption

1982 • 275 citations

Genetic analysis of an MDR-like export system: the secretion of colicin V.

1990 • 234 citations

Phosphate-specific transport system of Escherichia coli: nucleotide sequence and gene-polypeptide relationships

1985 • 219 citations

Sequence of themalKgene inE.coliK12

1982 • 157 citations

A new cell division operon inEscherichia coli

1986 • 156 citations

Sequences of Escherichia coli uvrA gene and protein reveal two potential ATP binding sites.

1986 • 137 citations

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

1990 • 128 citations

The nucleotide sequences of the rbsD, rbsA, and rbsC genes of Escherichia coli K12.

1986 • 128 citations

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

1990 • 112 citations

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.

1987 • 91 citations

Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus

1990 • 67 citations

Nucleotide sequence of the fhuC and fhuD genes involved in iron (III) hydroxamate transport: Domains in FhuC homologous to ATP-binding proteins

1987 • 62 citations

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

1986 • 54 citations

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis

1989 • 50 citations

Defective epithelial ion transport in cystic fibrosis.

1989 • 37 citations

Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci

1987 • 35 citations

Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation

1989 • 31 citations

Rapid nonradioactive detection of the major CF mutation

1990 • 28 citations

Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population

1990 • 15 citations

[Cystic fibrosis: long-term treatment at a specialized centre, and its prognostic value (author's transl)].

1982 • 2 citations