Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness

Otoancorin (OTOA), encoded by OTOA, is required for the development of the tectorial membrane (TM) in the inner ear. Mutations in this gene cause non-syndromic hearing loss (DFNB22). The molecular mechanisms underlying most of DFNB22 remains poorly understood. Disruption of glycosylphosphatidylinosi...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Kim, Bong Jik, Kim, Dong-Kyu, Han, Jin Hee, Oh, Jayoung, Kim, Ah Reum, Lee, Chung, Kim, Nayoung KD, Park, Hye-Rim, Kim, Min Young, Lee, Sejoon, Lee, Seungmin, Oh, Doo Yi, Park, Woong-Yang, Park, Sungjin, Choi, Byung Yoon
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467692/
https://ncbi.nlm.nih.gov/pubmed/30740825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23719
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