A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.

Human mutation

Volumn 24, Issue 6, 2004, Pages 535-

  Tiede, Stephan ^a   Cantz, Michael ^a   Raas Rothschild, Annick ^a   Muschol, Nicole ^a   Bürger, Friederike ^a   Ullrich, Kurt ^a   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GNPTAG PROTEIN, HUMAN; PHOSPHOTRANSFERASE;

ARTICLE; BINDING SITE; CASE REPORT; CHILD; DNA SEQUENCE; ENZYMOLOGY; FEMALE; GENETICS; GLYCOSYLATION; HUMAN; LYSOSOME; MALE; MUCOLIPIDOSIS; NUCLEOTIDE SEQUENCE;

BINDING SITES; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOSYLATION; HUMANS; LYSOSOMES; MALE; MUCOLIPIDOSES; SEQUENCE ANALYSIS, DNA; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

MLCS; MLOWN;

EID: 24344454451     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9293     Document Type: Article

References (0)