LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes

Oliveira, J.; Gruber, A.; Cardoso, M.; Taipa, R.; Fineza, I.; Goncalves, A.; ... ; Sousa, M. (2018)

Article / Letter to editor

• congenital
• LAMA2
• laminin-alpha 2
• locus-specific database
• muscular dystrophy
• mutation update

• All authors: Oliveira, J.; Gruber, A.; Cardoso, M.; Taipa, R.; Fineza, I.; Goncalves, A.; Laner, A.; Winder, T.L.; Schroeder, J.; Rath, J.; Oliveira, M.E.; Vieira, E.; Sousa, A.P.; Vieira, J.P.; Lourenco, T.; Almendra, L.; Negrao, L.; Santos, M.; Melo-Pires, M.; Coelho, T.; Dunnen, J.T. den; Santos, R.; Sousa, M.
• Date: 2018-10-31
• Journal: Human Mutation
• Volume: 39
• Issue: 10
• Pages: 1314 - 1337
• DOI: doi:10.1002/humu.23599