Cohen syndrome is associated with major glycosylation defects

Human Molecular Genetics

Volumn 23, Issue 9, 2014, Pages 2391-2399

  Duplomb, Laurence ^a,b   Duvet, Sandrine ^c   Picot, Damien ^a   Jego, Gaëtan ^a   El Chehadeh Djebbar, Salima ^a,b   Marle, Nathalie ^a,b   Gigot, Nadège ^a,b   Aral, Bernard ^a,b   Carmignac, Virginie ^a   Thevenon, Julien ^a,b   Lopez, Estelle ^a   Rivière, Jean Baptiste ^a,b   Klein, André ^c   Philippe, Christophe ^d   Droin, Nathalie ^e   Blair, Edward ^f   Girodon, François ^b   Donadieu, Jean ^g   Bellanné Chantelot, Christine ^h   Delva, Laurent ^a   Michalski, Jean Claude ^c   Solary, Eric ^a,e   Faivre, Laurence ^a,b   Foulquier, François ^c   Thauvin Robinet, Christel ^a,b   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c UNIV LILLE   (France)

^d UNIVERSITY HOSPITAL OF NANCY   (France)

^e INSTITUT GUSTAVE ROUSSY   (France)

^f CHURCHILL HOSPITAL   (United Kingdom)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; CELL PROTEIN; GLYCAN; PLASMA PROTEIN; ICAM2 PROTEIN, HUMAN; INTERCELLULAR ADHESION MOLECULE 1; LEUKOCYTE ANTIGEN; TRANSFERRIN; VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL MIGRATION; COHEN SYNDROME; ENDOSOME; FIBROBLAST; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; LYSOSOME; MATURATION; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RNA INTERFERENCE; DEVELOPMENTAL DISORDER; FINGER; INTELLECTUAL IMPAIRMENT; METABOLISM; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; POLYACRYLAMIDE GEL ELECTROPHORESIS;

ANTIGENS, CD; CELL ADHESION MOLECULES; DEVELOPMENTAL DISABILITIES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FIBROBLASTS; FINGERS; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; INTELLECTUAL DISABILITY; INTERCELLULAR ADHESION MOLECULE-1; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; RNA INTERFERENCE; TRANSFERRIN; VESICULAR TRANSPORT PROTEINS;

EID: 84897550725     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt630     Document Type: Article

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