Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Human mutation

Volumn 22, Issue 5, 2003, Pages 420-421

  Westphal, Vibeke ^a   Xiao, Ming ^a   Kwok, Pui Yan ^a   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS REGULATORY PROTEIN; CALCIUM BINDING PROTEIN; PDCD6 PROTEIN, HUMAN;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; FEMALE; GENE FREQUENCY; GENETICS; GLYCOSYLATION; HOMOZYGOTE; HUMAN; METABOLISM; POINT MUTATION; PRESCHOOL CHILD;

APOPTOSIS REGULATORY PROTEINS; CALCIUM-BINDING PROTEINS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GLYCOSYLATION; HOMOZYGOTE; HUMANS; POINT MUTATION;

EID: 2142804719     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9195     Document Type: Article

References (0)