Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-relat...

by Merlini Luciano, Bertini Enrico, Mercuri Eugenio, Grumati Paolo, Fabris Marina, Sabatelli Patrizia, Urciuolo Anna, Martoni Elena, Neri Marcella, Bovolenta Matteo, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca
Published 2010-03-01

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

by Falzarano Maria S, Brioschi Simona, Spitali Pietro, Bassi Elena, Martoni Elena, Venturoli Anna, Trabanelli Cecilia, Fabris Marina, Fini Sergio, Neri Marcella, Bovolenta Matteo, Rimessi Paola, Ciccone Roberto, Ashton Emma, McCauley Joanne, Yau Shu, Abbs Stephen, Muntoni Francesco, Merlini Luciano, Gualandi Francesca, Ferlini Alessandra
Published 2008-11-01