OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9

We have recently reported that OTOF underlies an autosomal recessive form of prelingual sensorineural deafness, DFNB9. The isolated 5-kb cDNA predicted a 1,230 amino acid (aa) C-terminus membrane–anchored cytosolic protein with three C2 domains. This protein belongs to a family of mammalian proteins...

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Autores principales: Yasunaga, Shin'ichiro, Grati, M'hamed, Chardenoux, Sébastien, Smith, Tenesha N., Friedman, Thomas B., Lalwani, Anil K., Wilcox, Edward R., Petit, Christine
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2000
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287519/
https://ncbi.nlm.nih.gov/pubmed/10903124
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