Concepedia

Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations

Sabina Liechti‐Gallati, Irene Bonsall, Naseem Malik, Verena Schneider, Lilliane G Kraemer, Anna Ruedeberg, Hans Moser, Richard Kraemer

Pediatric Research · 1992 · 43 citations · 18 references

DOI

Concepts

References

18

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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Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

Seng H. Cheng, Richard J. Gregory, John Marshall et al. · Cell · 1990 · 1.8K citations

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Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Devra P. Rich, Matthew P. Anderson, Richard J. Gregory et al. · Nature · 1990 · 706 citations

, , +14

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

Lap‐Chee Tsui, Manuel Buchwald, David Barker et al. · Science · 1985 · 494 citations

, , +16

Localization of cystic fibrosis locus to human chromosome 7cen–q22

Brandon J. Wainwright, Peter Scambler, Jörg Schmidtke et al. · Nature · 1985 · 487 citations

, , +11