ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig

Human Molecular Genetics

Volumn 11, Issue 19, 2002, Pages 2331-2339

  Grubenmann, Claudia E ^a   Frank, Christian G ^b   Kjaergaard, Susanne ^c   Berger, Eric G ^a   Aebi, Markus ^b   Hennet, Thierry ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b ETH ZURICH   (Switzerland)

^c Mental Health Services CPH   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; COMPLEMENTARY DNA; DOLICHOL PHOSPHATE; GLYCAN; GLYCOPROTEIN; MANNOSYLTRANSFERASE; OLIGOSACCHARIDE; POLYPEPTIDE; PYROPHOSPHATE;

ALLELE; AMINO ACID SUBSTITUTION; ANOREXIA; ARTICLE; BODY DYSMORPHIC DISORDER; CARBOHYDRATE SYNTHESIS; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE SEVERITY; DNA DETERMINATION; ENDOPLASMIC RETICULUM; ENZYME DEFECT; EUKARYOTE; FIBROBLAST; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MUSCLE HYPOTONIA; MUTANT; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PSYCHOMOTOR RETARDATION; SACCHAROMYCES CEREVISIAE; SYSTEMIC DISEASE;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ENDOPLASMIC RETICULUM; GLYCOSYLATION; HUMANS; INFANT; MALE; MANNOSYLTRANSFERASES; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUSCLE HYPERTONIA; PHENOTYPE; PSYCHOMOTOR DISORDERS; SEQUENCE ALIGNMENT;

EUKARYOTA; SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0037106328     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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