Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

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

Life Sciences, Genetics, Molecular Genetics +14

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Life Sciences, Genetics, Genomics +16

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

Life Sciences, Genetics, Human Genetics +2

Cloning and expression of an inwardly rectifying ATP-regulated potassium channel

Kevin Ho, Colin G. Nichols, W. Jonathan Lederer et al. · Nature · 1993 · 942 citations

Natural Sciences, Biochemistry, Molecular Biology +12

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

David B. Simon, Fiona E. Karet, Jahed M. Hamdan et al. · Nature Genetics · 1996 · 907 citations

Medicine, Nephrology, Calcium Homeostasis +6