Article
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
Clinical genetics - 1 Sept 1998
Zhong N, Wisniewski K E, Hartikainen J, Ju W, Moroziewicz D N, McLendon L, Sklower Brooks S S, Brown W T
Abstract excerpt
Late infantile neuronal ceroid lipofuscinosis (LINCL) is one of the most common pediatric neuronal degenerative disorders. A candidate gene underlying this disease, designated CLN2, was recently cloned and the gene product was characterized as a lysosomal pepstatin-insensitive carboxypeptidase (L...
Topics
- Aminopeptidases
- Cell Line
- DNA Mutational Analysis
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- Endopeptidases
- Humans
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Peptide Hydrolases
- Point Mutation
- Sequence Analysis, DNA
- Serine Proteases
- Tripeptidyl-Peptidase 1