Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase

EMBO Journal

Volumn 18, Issue 23, 1999, Pages 6816-6822

  Körner, Christian ^e   Knauer, Roland ^b   Stephani, Ulrich ^c   Marquardt, Thorsten ^d   Lehle, Ludwig ^b   Von Figura, Kurt ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

^d UNIVERSITY OF MÜNSTER   (Germany)

^e NONE

Author keywords

ALG3 gene; Carbohydrate deficient glycoprotein syndrome; Dolichyl P Man:Man5GlcNAc2 PP dolichyl mannosyltransferase

Indexed keywords

DOLICHOL PHOSPHATE MANNOSE; MANNOSE; MANNOSYLTRANSFERASE; OLIGOSACCHARIDE; VALPROIC ACID;

ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; EPILEPSY; GLYCOSYLATION; HUMAN; HUMAN CELL; MALE; MICROCEPHALY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY;

SACCHAROMYCES CEREVISIAE;

EID: 0038497419     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/18.23.6816     Document Type: Article

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