Otosclerosis Associated with a De Novo Mutation −832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level

Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation −832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we pr...

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Detalles Bibliográficos
Autores principales: Priyadarshi, Saurabh, Hansdah, Kirtal, Ray, Chinmay Sundar, Biswal, Narayan Chandra, Ramchander, Puppala Venkat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4941736/
https://www.ncbi.nlm.nih.gov/pubmed/27404893
http://dx.doi.org/10.1038/srep29572

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