Concepedia

A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis, S M Curristin, C.S. Chu, Colin A. Graham, Antony E. Shrimpton, Siobhan M. Cashman, L.‐C. Tsui, John E. Mickle,

Nature Genetics · 1993 · 442 citations · 27 references

DOI

Concepts

References

27

Identification of the Cystic Fibrosis Gene: Genetic Analysis

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

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The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

, , +13

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

Eitan Kerem, Mary Corey, Batsheva Kerem et al. · New England Journal of Medicine · 1990 · 732 citations · Full text

, , +14

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

Julian Zielenski, Richard Rozmahel, Dominique Bozon et al. · Genomics · 1991 · 547 citations

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

Chin-Shyan Chu, Bruce C. Trapnell, S M Curristin et al. · Nature Genetics · 1993 · 518 citations

, , +13