Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik

Human Molecular Genetics

Volumn 13, Issue 5, 2004, Pages 535-542

  Grubenmann, Claudia E ^a   Frank, Christian G ^b   Hülsmeier, Andreas J ^a   Schollen, Els ^c   Matthijs, Gert ^c   Mayatepek, Ertan ^d   Berger, Eric G ^a   Aebi, Markus ^b   Hennet, Thierry ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINOBENZAMIDE; AMINO ACID; DOLICHOL PHOSPHATE; LIPOOLIGOSACCHARIDE; MANNOSE; MANNOSYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; OLIGOSACCHARIDE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BIOACCUMULATION; BIOASSAY; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; ENZYME DEFECT; ENZYME DEFICIENCY; ENZYME GLYCOSYLATION; FLUORESCENCE ANALYSIS; FUNGUS MUTANT; GENE MUTATION; GENETIC COMPLEMENTATION; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; MALE; NEWBORN; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; SACCHAROMYCES CEREVISIAE; SEPARATION TECHNIQUE;

AMINO ACID SEQUENCE; ANTHRANILIC ACIDS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; FLUORESCENCE; GENETIC COMPLEMENTATION TEST; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HUMANS; MANNOSE; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUTATION; OLIGOSACCHARIDES; PLASMIDS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 1542329546     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh050     Document Type: Article

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