Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Por Satre, V, Monnier, N, Berthoin, F, Ayuso, C, Joannard, A, Jouk, P S, Lopez-Pajares, I, Megabarne, A, Philippe, H J, Plauchu, H, Torres, M L, Lunardi, J
Publicado em 1999