Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene

GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and...

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Detalles Bibliográficos
Autores principales: Kim, Juwon, Jung, Jinsei, Lee, Min Goo, Choi, Jae Young, Lee, Kyung-A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491724/
https://www.ncbi.nlm.nih.gov/pubmed/26088551
http://dx.doi.org/10.1038/emm.2015.32

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491724/
https://www.ncbi.nlm.nih.gov/pubmed/26088551
http://dx.doi.org/10.1038/emm.2015.32

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