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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2011
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| Materias: | |
| 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 |