RGD Reference Report - Salt wasting and deafness resulting from mutations in two chloride channels. - Rat Genome Database

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Salt wasting and deafness resulting from mutations in two chloride channels.

Authors: Schlingmann, KP  Konrad, M  Jeck, N  Waldegger, P  Reinalter, SC  Holder, M  Seyberth, HW  Waldegger, S 
Citation: Schlingmann KP, etal., N Engl J Med 2004 Mar 25;350(13):1314-9.
RGD ID: 1300378
Pubmed: PMID:15044642   (View Abstract at PubMed)
DOI: DOI:10.1056/NEJMoa032843   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sensorineural hearing loss  IAGP 1300378Bartter syndrome type 4 more ...RGD 
sensorineural hearing loss  ISOCLCNKA (Homo sapiens)1300378; 1300378Bartter syndrome type 4 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Clcnka  (chloride voltage-gated channel Ka)

Genes (Mus musculus)
Clcnka  (chloride channel, voltage-sensitive Ka)

Genes (Homo sapiens)
CLCNKA  (chloride voltage-gated channel Ka)


Additional Information