Title : Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Pub. Date : 2018

PMID : 30581635






1 Functional Relationships(s)
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1 GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. G(M1) Ganglioside galactosidase beta 1 Homo sapiens