Guanosine diphosphate-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): Five new patients and seven novel mutations

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 729-735

  Dupré, Thierry ^a,b,c   Vuillaumier Barrot, S ^a,b,c   Chantret, I ^b,c   Yaye H S ^a   Le Bizec, C ^a   Afenjar, A ^d   Altuzarra, C ^e   Barnerias C ^f   Burglen, L ^d   De Lonlay, P ^c,f   Feillet, F ^g   Napuri, S ^h   Seta, N ^a,c   Moore, S E H ^b,c  

^a BICHAT HOSPITAL   (France)

^b CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e HÔPITAL SAINT JACQUES   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g CHU NANCY BRABOIS   (France)

^h SERVICE DE RHUMATOLOGIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DOLICHOL PHOSPHATE; GENOMIC DNA; GLYCOPROTEIN; GUANOSINE DIPHOSPHATE MANNOSE; LIPOOLIGOSACCHARIDE; MANNOSYLTRANSFERASE; MANNOSYLTRANSFERASE 1; MANNOSYLTRANSFERASE 2; MANNOSYLTRANSFERASE 3; N ACETYLGLUCOSAMINE DOLICHOL PYROPHOSPHATE; UNCLASSIFIED DRUG;

ARTICLE; CARBOHYDRATE SYNTHESIS; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1K; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; EYE DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MICROSOME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SKIN BIOPSY; SKIN FIBROBLAST;

BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; HUMANS; INFANT; LIPOPOLYSACCHARIDES; MALE; MANNOSYLTRANSFERASES; MUTATION;

EID: 78149327905     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.072504     Document Type: Article

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