Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia

Genetics in Medicine

Volumn 3, Issue 6, 2001, Pages 393-398

  Westphal, Vibeke ^a   Peterson, Sandra ^a   Patterson, Marc ^a   Tournay, Anne ^a   Blumenthal, Andrea ^a   Treacy, Eileen P ^a   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

Author keywords

Congenital disorders of glycosylation; Genotype phenotype; Oligosaccharide; Phosphomannomutase

Indexed keywords

COMPLEMENTARY DNA; MANNOSE; PHOSPHOMANNOMUTASE;

ARTICLE; BIOSYNTHESIS; BIRTH DEFECT; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DISEASE CARRIER; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME GLYCOSYLATION; EUKARYOTE; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION PROFILING; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MALE; METABOLIC DISORDER; SACCHAROMYCES CEREVISIAE; TEMPERATURE RELATED PHENOMENA;

EUKARYOTA; SACCHAROMYCES; SACCHAROMYCES CEREVISIAE;

EID: 0035746368     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200111000-00003     Document Type: Article

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