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Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23928
Abstract: Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of GlcNAc‐1‐phosphotransferase. This enzyme catalyzes the initial step in the modification of more than 70 lysosomal…
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Keywords:
mutations gnptab;
mucolipidosis iii;
alpha beta;
iii alpha ... See more keywords