Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 124-132

  Pohl, Sandra ^a   Encarnação, Marisa ^a   Castrichini, Monica ^a   Müller Loennies, Sven ^b   Muschol, Nicole ^a   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b RESEARCH CENTER BORSTEL   (Germany)

Author keywords

GNPTG; Intron retention; Lysosomal enzymes; Mannose 6 phosphate; Mucolipidosis III; Splicing mutation

Indexed keywords

BETA GLUCURONIDASE; BETA N ACETYLHEXOSAMINIDASE; CATHEPSIN D; CEREBROSIDE SULFATASE; GENOMIC DNA; MANNOSE 6 PHOSPHATE; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE GAMMA; UNCLASSIFIED DRUG; LYSOSOME ENZYME; MESSENGER RNA; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE GAMMA SUBUNIT; PHOSPHOTRANSFERASE;

ADOLESCENT; ARTHRALGIA; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; ENZYME ACTIVITY; ENZYME SUBUNIT; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; JOINT STIFFNESS; MALE; MUCOLIPIDOSIS TYPE 3; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEPLETION; RNA ISOLATION; SPLICING DEFECT; CELL CULTURE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; EXON; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GNPTG GENE; IMMUNOREACTIVITY; MOLECULAR DIAGNOSIS; PHENOTYPE; SCHOOL CHILD; SIBLING;

ADOLESCENT; FEMALE; HUMANS; INTRONS; MALE; MUCOLIPIDOSES; MUTATION; PATHOLOGY, MOLECULAR; RNA, MESSENGER; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 75149142903     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33170     Document Type: Article

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