Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed asian ancestry

Molecular Genetics and Metabolism

Volumn 73, Issue 1, 2001, Pages 71-76

  Westphal, Vibeke ^a   Enns, Gregory M ^b   McCracken, Marjorie F ^c   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b STANFORD UNIVERSITY   (United States)

^c San Jose Hospital   (United States)

Author keywords

Abnormalities; Carbohydrate; Carbohydrate deficient glycoprotein syndrome; CDG; CDG Ia; Congenital disorders of glycosylation; DNA mutational analysis; Glycoprotein; Phosphomannomutase; PMM

Indexed keywords

GENE PRODUCT; MANNOSE 6 PHOSPHATE; PHOSPHOMANNOMUTASE;

ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CONGENITAL DISORDER; ETHNIC DIFFERENCE; FEEDING; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GLYCOSYLATION; HUMAN; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEWBORN; PRIORITY JOURNAL;

ATAXIA;

EID: 0035717599     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3174     Document Type: Article

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