Concepedia

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression

Ángeles Mencía, Daniel González‐Nieto, Silvia Modamio‐Høybjør, Ainhoa Etxeberría, Gracia Aránguez, Nieves Salvador, Ignacio del Castillo, Álvaro Villarroel, Felipe Moreno, Luis C. Barrio,

Human Genetics · 2007 · 54 citations · 36 references

DOI

Concepts

References

36

The Structure of the Potassium Channel: Molecular Basis of K <sup>+</sup> Conduction and Selectivity

D. Doyle, João H. Morais‐Cabral, Richard A. Pfuetzner et al. · Science · 1998 · 6.8K citations

, , +17

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

, , +12

Cystic Fibrosis

Steven M. Rowe, Stacey Miller, Eric J. Sorscher · New England Journal of Medicine · 2005 · 1.4K citations

, , +13

Spectrum of Mutations in Long-QT Syndrome Genes

Igor Splawski, Jiaxiang Shen, Katherine W. Timothy et al. · Circulation · 2000 · 1.2K citations · Full text

, , +15

Determination of the subunit stoichiometry of a voltage-activated potassium channel

Roderick MacKinnon · Nature · 1991 · 929 citations

, , +13