| 1 | BSND4D, CLCNKB
|
| Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
|
| Robitaille P, Merouani A, He N, Pei Y.
|
| Eur J Pediatr 170(9):1209-11. doi: 10.1007/s00431-011-1464-z.
2011
|
| 2 | BSND, BSND4, BSND4D, CLCNKA, CLCNKB
|
| Barttin modulates trafficking and function of ClC-K channels.
|
| Scholl U, Hebeisen S, Janssen AG, Muller-Newen G, Alekov A, Fahlke C.
|
| Proc Natl Acad Sci U S A 103(30):11411-6. Epub 2006 Jul 18. 2006
|
| 3 | BSND3, BSND4D, CLCNKB, GTMS1, SLC12A3
|
| Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
|
| Bettinelli A, Borsa N, Syren ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S.
|
| Pediatr Res 58(6):1269-73. 2005
|
| 4 | BSND3, BSND4D, CLCNKA, CLCNKB
|
| Salt wasting and deafness resulting from mutations in two chloride channels.
|
| Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.
|
| N Engl J Med 350(13):1314-9. No abstract available. 2004
|
| 5 | BSND3, BSND4, BSND4D
|
| Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
|
| Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC.
|
| Am J Hum Genet 62(2):355-61. 1998
|