Concepedia

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Stephan Rust, Marie Rosier, Harald Funke, José Manuel Fernández‐Real, Zahir Amoura, Jean‐Charles Piette, Jean‐François Deleuze, H. Bryan Brewer, Nicolas Duverger, Patrice Denèfle,

Nature Genetics · 1999 · 1.5K citations · 22 references

DOI

Concepts

References

22

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

, , +12

A Light and Electron Microscopic Study

Sydney S. Schochet, William F. McCermick, Gerald F. F · 1976 · 1.6K citations

, , +5

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Jean Mosser, Anne‐Marie Douar, Claude‐Olivier Sarde et al. · Nature · 1993 · 1.2K citations

, , +7

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra Strautnieks, Laura N. Bull, Alexander S. Knisely et al. · Nature Genetics · 1998 · 999 citations

, , +13

Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

Pamela M. Thomas, Gilbert J. Cote, Nelson Wohllk et al. · Science · 1995 · 816 citations

, , +16