P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels

Autor: Cody, Neal, Phua, Yu Leng, Li, Wenjiao, Nazarenko, Irina, Stauffer, Brandon, Chen, Hongjie, Xiao, Jing, Edelmann, Lisa, Kornreich, Ruth, Yu, Chunli, Desnick, Robert
Zdroj: In Genetics in Medicine Open 2023 1(1) Supplement
Databáze: ScienceDirect