Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

BACKGROUND: Espins are actin bundling proteins present in hair cell stereocilia. A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. More recently mutations in the human espin gene (ESPN) have be...

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Main Authors: Donaudy, F, Zheng, L, Ficarella, R, Ballana, E, Carella, M, Melchionda, S, Estivill, X, Bartles, J R, Gasparini, P
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2006
Assuntos:
Letter to JMG
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564636/
https://ncbi.nlm.nih.gov/pubmed/15930085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032086
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