Hypothesis: Lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG

Journal of Medical Genetics

Volumn 55, Issue 2, 2018, Pages 137-142

  Haijes, Hanneke A ^a   Jaeken, Jaak ^b   Foulquier, François ^c   Van Hasselt, Peter M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE   (France)

Author keywords

CDG; COG; congenital disorder(s) of glycosylation; conserved oligomeric Golgi complex

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; CELL FUNCTION; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE SEVERITY; EXOME; FEMALE; GENE MUTATION; GENETIC VARIATION; GENOMICS; GOLGI COMPLEX; HUMAN; HYPOTHESIS; INFANT; LOBE A CONSERVED OLIGOMERIC GOLGI 1; LOBE A CONSERVED OLIGOMERIC GOLGI 2; LOBE A CONSERVED OLIGOMERIC GOLGI 3; LOBE A CONSERVED OLIGOMERIC GOLGI 4; LOBE B CONSERVED OLIGOMERIC GOLGI 5; LOBE B CONSERVED OLIGOMERIC GOLGI 6; LOBE B CONSERVED OLIGOMERIC GOLGI 7; LOBE B CONSERVED OLIGOMERIC GOLGI 8; MALE; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; YOUNG ADULT; CHEMISTRY; GENETIC ASSOCIATION STUDY; GENETICS; MUTATION;

COG1 PROTEIN, HUMAN; COG2 PROTEIN, HUMAN; COG4 PROTEIN, HUMAN; COG8 PROTEIN, HUMAN; MULTIPROTEIN COMPLEX; VESICULAR TRANSPORT ADAPTOR PROTEIN; VESICULAR TRANSPORT PROTEIN;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MULTIPROTEIN COMPLEXES; MUTATION; PHENOTYPE; VESICULAR TRANSPORT PROTEINS;

EID: 85046421045     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2017-104586     Document Type: Article

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