DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A major challenge is due to a closely linked pseudogene with 99.6% coding sequence identity. In 94 GJB2/GJB6-mutation negative individuals with non-syndromic sensorineural he...

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Detalles Bibliográficos
Autores principales: Vona, B, Hofrichter, MAH, Neuner, C, Schröder, J, Gehrig, A, Hennermann, JB, Kraus, F, Shehata-Dieler, W, Klopocki, E, Nanda, I, Haaf, T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2015
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302246/
https://www.ncbi.nlm.nih.gov/pubmed/26011646
http://dx.doi.org/10.1111/cge.12332

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