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

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2753-2761

  Zarghooni, Maryam ^a   Dittakavi, Sarma S R ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

Correction by gene transfer; GlcNAc 1 phosphotransferase; GNPTAB; GNPTG; Mucolipidosis

Indexed keywords

GNPTAB ENZYME; GNPTG ENZYME; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; PEPTIDE ANTIBODY; PHOSPHOTRANSFERASE; TRANSFERASE; UNCLASSIFIED DRUG;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SCREENING TEST;

BETA-GALACTOSIDASE; BLOTTING, WESTERN; CELL EXTRACTS; CELL LINE; DNA MUTATIONAL ANALYSIS; ENHANCER ELEMENTS, GENETIC; EXONS; EXTRACELLULAR SPACE; FIBROBLASTS; HEXOSAMINIDASES; HOMOZYGOTE; HUMANS; INTRACELLULAR SPACE; MUCOLIPIDOSES; MUTATION; PEPTIDES; PHENOTYPE; PROTEIN SUBUNITS; SOLUBILITY; SUBCELLULAR FRACTIONS;

EID: 71949126113     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33134     Document Type: Article

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