Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency

Autor: Bessa, C. a, b, 1, Teixeira, C.A.F. a, b, 1, Mangas, M. a, b, Dias, A. a, Sá Miranda, M.C. b, Guimarães, A. c, d, Ferreira, J.C. g, Canas, N. e, f, Cabral, P. g, Ribeiro, M.G. a, ⁎
Zdroj: In Molecular Genetics and Metabolism 2006 89(3):245-253
Databáze: ScienceDirect