Article
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
Nature genetics - 1 Jul 1998
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander E S, Peltonen L
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of childhood, with an incidence of 1:12,500 live births. They are characterized by accumulation of autofluorescent lipopigments in various tissues. Several forms of NCLs have been...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA, Complementary
- Exons
- Finland
- Humans
- Lysosomal Membrane Proteins
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Sequence Deletion
- Tissue Distribution