Prevalence of 35de1G/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Mutations in GJB2 gene are the leading cause of deafness in autosomal recessive inheritance, and the 35delG mutation is the most common in many ethnic groups. Besides the 35delG mutation in homozygosis, the mutation is also found in compound heterozygosis, coupled with other mutations in genes GJB2...

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Detalles Bibliográficos
Autores principales: de Freitas Cordeiro-Silva, Melissa, Barbosa, Andressa, Santiago, Marília, Provetti, Mariana, Rabbi-Bortolini, Eliete
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446172/
https://www.ncbi.nlm.nih.gov/pubmed/20835527
http://dx.doi.org/10.1590/S1808-86942010000400004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446172/
https://www.ncbi.nlm.nih.gov/pubmed/20835527
http://dx.doi.org/10.1590/S1808-86942010000400004

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