Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7
M.L. Cardoso, A. Balreira, E. Martins, L. Nunes, A. Cabral, M. Marques, M. Reis Lima, J.S. Marques, A. Medeira, I. Cordeiro, S. Pedro, M.C. Mota, C. Dionisi-Vici, F.M. Santorelli, C. Jakobs, P.T. ClayVolume:
85
Year:
2005
Language:
english
DOI:
10.1016/j.ymgme.2005.02.009
File:
PDF, 537 KB
english, 2005