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

doi:10.1038/sj.ejhg.5200194

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Article

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

European journal of human genetics : EJHG - 1 Jan 2000

Kjaergaard S, Skovby F, Schwartz M

Abstract excerpt

Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1; McKusick No. 212065) is an autosomal recessively inherited disease characterised clinically by central nervous system dysfunction and biochemically by hypoglycosylation of many serum proteins. Most patients with CDG1 have deficient activi...

Topics

Base Sequence
Cells, Cultured
Congenital Disorders of Glycosylation
DNA Primers
Denmark
Genes, Dominant
Homozygote
Humans
Mutation
Phosphoglucomutase
Phosphotransferases (Phosphomutases)

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