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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha: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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