A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
Titel:
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
Auteur:
Pepe, G Bertini, E Giusti, B Brunelli, T Comeglio, P Saitta, B Merlini, L Chu, M.L Federici, G Abbate, R