Brennan TMH, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R,
Sheffield VC
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p
Am. J. Hum. Genet. 62: 355-361, 1998
Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR
Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in
human tissues
Human Mol. Gen. 4, No 3: 407-413, 1995
Clive DM
Bartter`s syndrome: The unsolved puzzle
Am. J. Kidney Dis. 25: 813-823, 1995
Cruz DN, Shaer AJ, Bia AJ, Lifton RP, Simon DB
Gitelman`s syndrome revisited: An evaluation of symptoms and health-related quality of life
Kidney Intern. 59: 710-717, 2001
Derst C, Konrad M, Köckerling A, Károlyi L, Deschênes G, Daut J, Karschin A, Seyberth HW
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K
+
channel function
Biochem. Biophys. Res. Commun. 203: 641-645, 1997
Derst C, Wischmeyer E, Preisig-Müller R, Spauschus A, Konrad M, Hensen P, Jeck N, Seyberth
HW, Daut J, Karschin A
A Hyperprostaglandin E syndrome mutation in Kir 1.1 (renal outer medullary potassium)
channels reveals a crucial residue for channel function in Kir 1.3 channels
J. Biol. Chem. 273: 23884-23891, 1998
Doyle DA, Cabral JM, Pfuetzner RA, Kuo AK, Gulbis JM, Cohen SL, Chait BT, MacKinnon R
The structure of the potassium channel: molecular basis of K
+
conduction and selectivity
Science 280: 69-77, 1998
Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R
X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion
selectivity
Nature 415, No 17: 287-294, 2002
Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ
Barttin is a Cl
-
channel ß-subunit crucial for renal Cl
-
reabsorption and inner ear K
+
secretion
Nature 414: 558-561, 2001
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