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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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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: Priyadarshi, Saurabh, Hansdah, Kirtal, Ray, Chinmay Sundar, Biswal, Narayan Chandra, Ramchander, Puppala Venkat
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4941736/
https://ncbi.nlm.nih.gov/pubmed/27404893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep29572
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