A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If)

Journal of Clinical Investigation

Volumn 108, Issue 11, 2001, Pages 1613-1619

  Kranz, C ^a   Denecke, J ^a   Lehrman, M A ^a   Ray, S ^a   Kienz, P ^a   Kreissel, G ^a   Sagi, D ^a   Peter Katalinic, J ^a   Freeze, H H ^a   Schmid, T ^a   Jackowski Dohrmann, S ^a   Harms, E ^a   Marquardt, T ^a  

^a Klin/Poliklin fur Kinderheilkunde   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GLUCOSE; MANNOSE; OLIGOSACCHARIDE; PROTEIN MPDU1; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F; DRY SKIN; ERYTHRODERMA; FAILURE TO THRIVE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSFECTION; HUMAN; MALE; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; VISUAL IMPAIRMENT;

EID: 0035213817     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI13635     Document Type: Article

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