Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Journal of Clinical Investigation

Volumn 105, Issue 2, 2000, Pages 191-198

  Kim, Soohyun ^a,d   Westphal, Vibeke ^a   Srikrishna, Geetha ^a   Mehta, Darshini P ^a   Peterson, Sandra ^a   Filiano, James ^b   Karnes, Pamela S ^c   Patterson, Marc C ^c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^c MAYO CLINIC   (United States)

^d Korea Basic Science Institute (KBSI)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

DOLICHOL PHOSPHATE MANNOSE; OLIGOSACCHARIDE; SYNTHETASE; TRANSFERRIN; TRITIUM;

ARTICLE; CASE REPORT; CELL LINE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ASSAY; FIBROBLAST; GENETIC ANALYSIS; GLYCOSYLATION; HUMAN; HUMAN CELL; ISOTOPE LABELING; METABOLIC DISORDER; PRIORITY JOURNAL; SYMPTOMATOLOGY;

EID: 0033977322     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI7302     Document Type: Article

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