Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

Human mutation

Volumn 27, Issue 8, 2006, Pages 830-831

  Tiede, Stephan ^a   Cantz, Michael ^a   Spranger, Jürgen ^a   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; CATHEPSIN D; GNPTA PROTEIN, HUMAN; GNPTAG PROTEIN, HUMAN; PHOSPHOTRANSFERASE; PROTEIN SUBUNIT;

ADOLESCENT; ARTICLE; CASE REPORT; CELL CULTURE; CHILD; FIBROBLAST; GENETICS; HUMAN; INFANT; MALE; METABOLISM; MISSENSE MUTATION; MUCOLIPIDOSIS; RADIOGRAPHY;

ADOLESCENT; BETA-N-ACETYLHEXOSAMINIDASE; CATHEPSIN D; CELLS, CULTURED; CHILD; FIBROBLASTS; HUMANS; INFANT; MALE; MUCOLIPIDOSES; MUTATION, MISSENSE; PROTEIN SUBUNITS; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 33750135978     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9443     Document Type: Article

References (0)