A mutation in CFTR produces different phenotypes depending on chromosomal background

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Identification of the Cystic Fibrosis Gene: Genetic Analysis

1989 • 4,105 citations

The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF₅₀₈)

1990 • 724 citations

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

1991 • 550 citations

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1993 • 515 citations

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1992 • 457 citations

Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties

1993 • 456 citations

Genetic determination of exocrine pancreatic function in cystic fibrosis.

1992 • 437 citations

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

1990 • 433 citations

The spectrum of cystic fibrosis mutations

1992 • 413 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

A Cystic Fibrosis Bronchial Epithelial Cell Line: Immortalization by Adeno-12-SV40 Infection

1991 • 308 citations

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1986 • 277 citations

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

1991 • 174 citations

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.

1991 • 138 citations

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

1991 • 112 citations

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

1990 • 112 citations

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance

1993 • 99 citations

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

1992 • 94 citations

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

1992 • 80 citations

Identification of 12 novel mutations in the CFTR gene

1993 • 71 citations

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

1991 • 71 citations

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

1992 • 68 citations

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

1990 • 67 citations

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP.

1989 • 44 citations

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

1992 • 43 citations

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

1991 • 24 citations