Concepedia

Mutations in the Chloride Channel Gene, CLCNKB, Leading to a Mixed Bartter-Gitelman Phenotype

Nikola Jeck, Martin Konrad, Melanie Peters, Stefanie Weber, Klaus E. Bonzel, Hannsjörg W. Seyberth

Pediatric Research · 2000 · 197 citations · 30 references

DOI

Concepts

References

30

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

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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

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

David B. Simon, Ranjit S. Bindra, Traci A. Mansfield et al. · Nature Genetics · 1997 · 870 citations

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Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis

Frederic C. Bartter, P Pronove, Ross C. MacCardle · The American Journal of Medicine · 1962 · 802 citations

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Hyperplasia of the Juxtaglomerular Complex with Hyperaldosteronism and Hypokalemic Alkalosis.

J R Gill · Annals of Internal Medicine · 1963 · 746 citations

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