Article
A new insight into PMM2 mutations in the French population.
Human mutation - 1 May 2005
Le Bizec Christiane, Vuillaumier-Barrot Sandrine, Barnier Anne, Dupré Thierry, Durand Geneviève, Seta Nathalie
Abstract excerpt
Congenital disorder of Glycosylation type Ia is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene (mRNA U85773.1, gene ID 5373). More than 75 different mutations have been previously described. In our study, 38 different mutations were...
Topics
- Alleles
- Central Nervous System Diseases
- Escherichia coli
- Founder Effect
- France
- Glycosylation
- Haplotypes
- Humans
- Multiple Organ Failure
- Mutation
- Mutation, Missense
- Phosphotransferases (Phosphomutases)