A homozygousCOL6A2intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
Laura Lucarini, Betti Giusti, Rui-Zhu Zhang, Te-Cheng Pan, Cecilia Jimenez-Mallebrera, Eugenio Mercuri, Francesco Muntoni, Guglielmina Pepe, Mon-Li ChuVolume:
117
Language:
english
Pages:
7
DOI:
10.1007/s00439-005-1318-8
Date:
September, 2005
File:
PDF, 452 KB
english, 2005