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Volumn 277, Issue 28, 2002, Pages 25815-25822

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose: Man 7GlcNAc 2-PP-dolichyl mannosyltransferase

(15) Chantret, Isabelle a Dupré, Thierry b Delenda, Christophe c Bucher, Stéphanie d Dancourt, Julia e Barnier, Anne a Charollais, Aude b Heron, Delphine c Bader Meunier, Brigitte d Danos, Olivier d Seta, Nathalie e Durand, Geneviéve a Oriol, Rafael c Codogno, Patrice e Moore, Stuart E H a

a INSERM (France)

b BICHAT HOSPITAL (France)

c GÉNÉTHON (France)

d BICÊTRE HOSPITAL (France)

e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS (France)

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL DISORDERS;

AMINO ACIDS; DISEASES; DNA; GENES; MUTAGENESIS; NEUROLOGY; OLIGOMERS; PROTEINS; SUBSTITUTION REACTIONS; YEAST;

ENZYMES;

DOLICHOL PHOSPHATE MANNOSE; DOLICHYL PHOSPHATE MANNOSE:MANNOSE 7 N ACETYLGLUCOSAMINIDASE 2 DIPHOSPHATE DOLICHYL MANNOSYLTRANSFERASE; MANNOSYLTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONSANGUINITY; DOLICHYL PHOSPHATE MANNOSE:MANNOSE 7 N ACETYLGLUCOSAMINIDASE 2 DIPHOSPHATE DOLICHYL MANNOSYLTRANSFERASE DEFICIENCY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENETIC TRANSDUCTION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; NEWBORN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CELLS, CULTURED; DNA PRIMERS; EXPRESSED SEQUENCE TAGS; FEMALE; GLYCOSYLATION; HUMANS; INFANT, NEWBORN; MANNOSYLTRANSFERASES; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 18544384105 PISSN: 00219258 EISSN: None Source Type: Journal
DOI: 10.1074/jbc.M203285200 Document Type: Article

Times cited : (89)

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