Concepedia

Molecular Analysis of Patients With Type III Bartter Syndrome: Picking Up Large Heterozygous Deletions With Semiquantitative PCR

Kandai Nozu, Xue Jun Fu, Koichi Nakanishi, Norishige Yoshikawa, Hiroshi Kaito, Kyoko Kanda, Rafal P. Krol, Ritsuko Miyashita, Hidekazu Kamitsuji, Shoichiro Kanda,

Pediatric Research · 2007 · 49 citations · 17 references

DOI

Concepts

References

17

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

, , +6

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

, , +13

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

David B. Simon, Fiona E. Karet, Juan Rodríguez‐Soriano et al. · Nature Genetics · 1996 · 825 citations

, , +12

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

, , +7

Hyperplasia of the Juxtaglomerular Complex with Hyperaldosteronism and Hypokalemic Alkalosis.

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

, , +6