Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. coli

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 884-888

  Kjaergaard, Susanne ^a   Skovby, Flemming ^b   Schwartz, Marianne ^b  

^a Rigshospitalet   (Denmark)

^b NONE

Author keywords

Carbohydrate deficient glycoprotein syndrome 1A; Gene expression; Phosphomannomutase; PMM2

Indexed keywords

COMPLEMENTARY DNA; GLYCOPROTEIN; MANNOSE PHOSPHATE; PHOSPHOMANNOMUTASE; RECOMBINANT PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLONING VECTOR; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DENMARK; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME SUBSTRATE COMPLEX; ESCHERICHIA COLI; GENE EXPRESSION; GENOTYPE; HUMAN; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; TEMPERATURE SENSITIVITY;

EID: 0033389547     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200398     Document Type: Article

References (15)

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