S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse

Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and exome sequencing revealed a Thr289Arg substitution in Sph...

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Detalles Bibliográficos
Autores principales: Ingham, Neil J., Carlisle, Francesca, Pearson, Selina, Lewis, Morag A., Buniello, Annalisa, Chen, Jing, Isaacson, Rivka L., Pass, Johanna, White, Jacqueline K., Dawson, Sally J., Steel, Karen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935955/
https://www.ncbi.nlm.nih.gov/pubmed/27383011
http://dx.doi.org/10.1038/srep28964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935955/
https://www.ncbi.nlm.nih.gov/pubmed/27383011
http://dx.doi.org/10.1038/srep28964

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