Concepedia

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

David B. Simon, Ranjit S. Bindra, Traci A. Mansfield, Carol Nelson‐Williams, Érica Mendonça, Rosário Stone, Scott J. Schurman, Harika Alpay, A Bakkaloğlu, Juan Rodríguez‐Soriano,

Nature Genetics · 1997 · 870 citations · 24 references

DOI

Concepts

References

24

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

, , +14

Analysis of Human Genetic Linkage.

A. W. F. Edwards, J Ott · Biometrics · 1992 · 1.7K citations

, , +17

Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

Richard A. Shimkets, David G. Warnock, Christopher M. Bositis et al. · Cell · 1994 · 1.3K citations

, , +15

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol Nelson‐Williams, Margaret J. Bia et al. · Nature Genetics · 1996 · 1.2K citations

, , +2

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

Richard P. Lifton, Robert G. Dluhy, Michael D. Powers et al. · Nature · 1992 · 1.2K citations · Full text

, , +16