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5 in total

1. Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.

Authors: M Macek; L Ladanyi; J Bürger; A Reis
Journal: Am J Hum Genet Date: 1992-11 Impact factor: 11.025

2. Identification of the cystic fibrosis gene: genetic analysis.

Authors: B Kerem; J M Rommens; J A Buchanan; D Markiewicz; T K Cox; A Chakravarti; M Buchwald; L C Tsui
Journal: Science Date: 1989-09-08 Impact factor: 47.728

3. Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens.

Authors: D Meschede; A Eigel; J Horst; E Nieschlag
Journal: Am J Hum Genet Date: 1993-07 Impact factor: 11.025

Review 4. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.

Authors: L C Tsui
Journal: Hum Mutat Date: 1992 Impact factor: 4.878

5. Benign missense variations in the cystic fibrosis gene.

Authors: K Kobayashi; M R Knowles; R C Boucher; W E O'Brien; A L Beaudet
Journal: Am J Hum Genet Date: 1990-10 Impact factor: 11.025

5 in total

1 in total

1. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Authors: Karen S Raraigh; Sangwoo T Han; Emily Davis; Taylor A Evans; Matthew J Pellicore; Allison F McCague; Anya T Joynt; Zhongzhou Lu; Melis Atalar; Neeraj Sharma; Molly B Sheridan; Patrick R Sosnay; Garry R Cutting
Journal: Am J Hum Genet Date: 2018-05-24 Impact factor: 11.025

1 in total