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Article

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

American journal of medical genetics. Part A - 1 Dec 2009

Zarghooni Maryam, Dittakavi Sarma S R

Abstract excerpt

Mucolipidosis II and III are autosomal recessive disorders due to mutations in the GNPTAB and GNPTG genes encoding the alphabeta- and gamma-subunits of the GlcNAc-1-phosphotransferase, respectively. This protein has a subunit structure of alpha(2)beta(2)gamma(2) and initiates the first step of tagging lysosomal enzymes with mannose-6-phosphate (M6P). In the present study, we screened four MLII and three MLIII...

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Source

Identifiers

PMID: 19938078
DOI: 10.1002/ajmg.a.33134

Genes

GNPTAB
GNPTG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.PMID 19938078Read ↗

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