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Article

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Gene - 15 Jul 2013

Cury G K, Matte U, Artigalás O, Alegra T, Velho R V, Sperb F, Burin M G, Ribeiro E M, Lourenço C M, Kim C A, Valadares E R, Galera M F, Acosta A X, Schwartz I V D

Abstract excerpt

UNLABELLED: Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the α and β subunits of phosphotransferase, the enzyme responsible for synthesis of the mannose-6-phosphate (M6P) marker that directs lysosomal enzymes to the lysosome. OBJECTIVES: The objective of this study is to...

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Identifiers

PMID: 23566849
DOI: 10.1016/j.gene.2013.03.105

Genes

GNPTAB

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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