High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease

Optimal assessment and management of chronic obstructive pulmonary disease (COPD). The European Respiratory Society Task Force

NM Siafakas, P. Vermeire, N.B. Pride et al. · European Respiratory Journal · 1995 · 1.6K citations · Full text

Asthma, A Task Force, Pulmonary Care +10

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

Matthew P. Anderson, Richard J. Gregory, Simon Thompson et al. · Science · 1991 · 1.1K citations

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Harry Cuppens, Wen‐chang Lin, Martine Jaspers et al. · Journal of Clinical Investigation · 1998 · 391 citations · Full text

Engineering, Genetics, Human Polymorphism +20

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

Pascale Fanen, Nada Ghanem, Michel Vidaud et al. · Genomics · 1992 · 267 citations

Splice Site Junctions, Molecular Physiology, Genetic Disorder +9

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

Julian Zielenski, Dominique Bozon, Batsheva Kerem et al. · Genomics · 1991 · 169 citations

Exons 1, Molecular Physiology, Genetic Disorder +9