Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure-Reference-Cited by-同舟云学术

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Published:2001-10-22 Issue:3 Volume:29 Page:310-314
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Birkenhäger Ralf,Otto Edgar,Schürmann Maria J.,Vollmer Martin,Ruf Eva-Maria,Maier-Lutz Irina,Beekmann Frank,Fekete Andrea,Omran Heymut,Feldmann Delphine,Milford David V.,Jeck Nicola,Konrad Martin,Landau Daniel,Knoers Nine V.A.M.,Antignac Corinne,Sudbrak Ralf,Kispert Andreas,Hildebrandt Friedhelm

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng752z.pdf

Reference30 articles.

1. Rodriguez-Soriano, J. Bartter and related syndromes: the puzzle is almost solved. Pediatr. Nephrol. 12, 315–327 (1998).

2. Simon, D.B. et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet. 13, 183–188 (1996).

3. Simon, D.B. et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nature Genet. 14, 152–156 (1996).

4. International Collaborative Study Group for Bartter-Like Syndromes. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum. Mol. Genet. 6, 17–26 (1997).

5. Simon, D.B. et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genet. 17, 171–178 (1997).

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