Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
Liyuan Guo, Bo Jin, Yidan Zhang, Jing Wang
The paper identifies a pathogenic ARSA mutation in a Chinese MLD family and shows it disrupts molecular processes like ion binding and vesicle transport.
Molecular Genetics & Genomic Medicine · Sep 1, 2020Peer-reviewedGenetics