A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

PURPOSE: Hearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from early childhood to second decade in seven members...

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Detalles Bibliográficos
Autores principales: Eisenberger, Tobias, Di Donato, Nataliya, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nürnberg, Gudrun, Toliat, Mohammad, Nürnberg, Peter, Mürbe, Dirk, Bolz, Hanno Jörn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993672/
https://www.ncbi.nlm.nih.gov/pubmed/29309402
http://dx.doi.org/10.1038/gim.2017.155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993672/
https://www.ncbi.nlm.nih.gov/pubmed/29309402
http://dx.doi.org/10.1038/gim.2017.155

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