CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

por Jacqueline M Ogier, Marina R Carpinelli, Benedicta D Arhatari, R C Andrew Symons, Benjamin T Kile, Rachel A Burt
Publicado 2014

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome

por Jacqueline M. Ogier, Benedicta D. Arhatari, Marina R. Carpinelli, Bradley K. McColl, Michael A. Wilson, Rachel A. Burt
Publicado 2018