Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations

Life Sciences, Genetics, Molecular Genetics +12

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

Life Sciences, Genetics, Molecular Genetics +10

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

W. Edward Highsmith, Lauranell H. Burch, Zhaoqing Zhou et al. · New England Journal of Medicine · 1994 · 437 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Batsheva Kerem, Julian Zielenski, D. Markiewicz et al. · Proceedings of the National Academy of Sciences · 1990 · 424 citations

Life Sciences, Genetics, Molecular Genetics +15

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Michael Dean, Marga Belle White, Jean Amos et al. · Cell · 1990 · 348 citations

Life Sciences, Genetics, Molecular Genetics +11