Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

doi:10.1086/301763

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Article

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

American journal of human genetics - 1 Mar 1998

Matthijs G, Schollen E, Van Schaftingen E, Cassiman J J, Jaeken J

Abstract excerpt

Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate...

Topics

Alleles
Congenital Disorders of Glycosylation
DNA Mutational Analysis
Heterozygote
Homozygote
Humans
Mutation
Phosphotransferases (Phosphomutases)
Polymorphism, Single-Stranded Conformational

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