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-related myopathies
Titel:
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-related myopathies
Auteur:
Bovolenta, Matteo Neri, Marcella Martoni, Elena Urciuolo, Anna Sabatelli, Patrizia Fabris, Marina Grumati, Paolo Mercuri, Eugenio Bertini, Enrico Merlini, Luciano Bonaldo, Paolo Ferlini, Alessandra Gualandi, Francesca