Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing

Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through...

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Detalles Bibliográficos
Autores principales: Chang, Mun Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Lee, Kyoung Yeul, Jeon, Woo-Sung, Koo, Ja-Won, Oh, Seung Ha, Park, Woong-Yang, Kim, Dongsup, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Molecular and Cellular Biology 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588721/
https://www.ncbi.nlm.nih.gov/pubmed/26242193
http://dx.doi.org/10.14348/molcells.2015.0078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588721/
https://www.ncbi.nlm.nih.gov/pubmed/26242193
http://dx.doi.org/10.14348/molcells.2015.0078

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