Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygou...

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Detalles Bibliográficos
Autores principales: Rodriguez-Paris, Juan, Tamayo, Marta L., Gelvez, Nancy, Schrijver, Iris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126855/
https://www.ncbi.nlm.nih.gov/pubmed/21738759
http://dx.doi.org/10.1371/journal.pone.0021665

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126855/
https://www.ncbi.nlm.nih.gov/pubmed/21738759
http://dx.doi.org/10.1371/journal.pone.0021665

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