Article
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
American journal of human genetics - 1 Oct 1998
Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T
Abstract excerpt
alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a severe, infantile form (type I), which is fatal at <3-8 years of age, to a less severe, late-onset...
Topics
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Primers
- Female
- Genetic Heterogeneity
- Humans
- Infant
- Lysosomes
- Male
- Mannosidases
- Middle Aged
- Mutation
- Mutation, Missense
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Recombinant Proteins
- Sequence Analysis, DNA