The Relation between Genotype and Phenotype in Cystic Fibrosis — Analysis of the Most Common Mutation (ΔF<sub>508</sub>)

1990729 citationsJournal Articlebronze Open Access

Authors

Eitan Kerem · Hospital for Sick Children

Mary Corey · University College London

Batsheva Kerem · Hospital for Sick Children

Johanna M. Rommens · Hospital for Sick Children

D. Markiewicz · Hospital for Sick Children

Henry Levison · Hospital for Sick Children

Lap‐Chee Tsui ·

Abstract

The variable clinical course in patients with cystic fibrosis can be attributed at least in part to specific genotypes at the locus of the cystic fibrosis gene.

Topics & Keywords

Cystic Fibrosis Research Advances Child Nutrition and Water Access Neonatal Respiratory Health Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: New England Journal of Medicine

Volume 323, Issue 22, pp. 1517-1522

DOI: 10.1056/nejm199011293232203

Field-Weighted Citation Impact: 57.21