Questioning the Pathogenic Role of the GLA p.Ala143Thr ˵Mutation″ in Fabry Disease: Implications for Screening Studies and ERT.

Autor: Terryn, W., Vanholder, R., Hemelsoet, D., Leroy, B. P., Van Biesen, W., De Schoenmakere, G., Wuyts, B., Claes, K., De Backer, J., De Paepe, G., Fogo, A., Praet, M., Poppe, B.
Zdroj: JIMD Reports - Case & Research Reports, 2012/5; 2013, p101-108, 8p
Databáze: Complementary Index