Article
[From gene to disease: deafness and connexin 26].
Nederlands tijdschrift voor geneeskunde - 9 Feb 2002
Hoefsloot L H, Kemperman M, Cremers C W R J
Abstract excerpt
Deafness is genetically heterogeneous, yet it is estimated that approximately half of the heritable cases of autosomal recessive deafness are caused by mutations in the gene coding for connexin 26. Connexin 26 is thought to have an essential role in the transport of potassium ions back to the endolymph of the inner ear after sound stimulation.
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