Article
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Nature genetics - 1 May 1997
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman J J, Van Schaftingen E
Abstract excerpt
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem disorders characterized by defective glycosylation of glycoconjugates. It is mostly a severe disorder which presents neonatally. There is a severe encephalopathy with a...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Cloning, Molecular
- Congenital Disorders of Glycosylation
- Fungal Proteins
- Heterozygote
- Humans
- Liver
- Molecular Sequence Data
- Mutation