Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

European Journal of Human Genetics

Volumn 6, Issue 4, 1998, Pages 331-336

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

^a Rigshospitalet   (Denmark)

Author keywords

CDG1; Linkage disequilibrium; Mutation; Phosphomannomutase; PMM2

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL;

EID: 0031854537     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200194     Document Type: Article

References (17)

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