[From gene to disease: deafness and connexin 26].
Copyright policy )[From gene to disease: deafness and connexin 26].
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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- University Medical Center United States
- Radboud University Nijmegen Netherlands
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Genes, Recessive, Deafness, Connexins, Connexin 26, Phenotype, Hearing, Hearing and Communication Disorders, Mutation, Gehoor en communicatie, Humans, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Genotype, Elucidation of hereditary disorders and their molecular diagnosis, Genes, Recessive, Deafness, Connexins, Connexin 26, Phenotype, Hearing, Hearing and Communication Disorders, Mutation, Gehoor en communicatie, Humans, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
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