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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Publicat a:Hum Mutat
Autors principals: 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
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia: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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