Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF.
Vaché C, et al. Among authors: le berre p.
Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
Hum Mutat. 2012.
PMID: 22009552