Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model
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Mucolipidosis type II is an autosomal recessive lysosomal storage disease resulting from biallelic variants in the GNPTAB gene encoding the N-acetylglucosamine phosphotransferase α/β subunits. Deficiency of this enzyme disrupts the mannose-6-phosphate (M6P) ... ...
