The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss

Mutations in five unconventional myosin genes have been associated with genetic hearing loss (HL). These genes encode the motor proteins myosin IA, IIIA, VI, VIIA and XVA. To date, most mutations in myosin genes have been found in the Caucasian population. In addition, only a few functional studies...

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Detalles Bibliográficos
Autores principales: Kwon, Tae-Jun, Oh, Se-Kyung, Park, Hong-Joon, Sato, Osamu, Venselaar, Hanka, Choi, Soo Young, Kim, SungHee, Lee, Kyu-Yup, Bok, Jinwoong, Lee, Sang-Heun, Vriend, Gert, Ikebe, Mitsuo, Kim, Un-Kyung, Choi, Jae Young
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Royal Society 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118606/
https://www.ncbi.nlm.nih.gov/pubmed/25080041
http://dx.doi.org/10.1098/rsob.140107

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