Article
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
American journal of human genetics - 1 Feb 2002
Gao Hanlin, Boustany Rose-Mary N, Espinola Janice A, Cotman Susan L, Srinidhi Lakshmi, Antonellis Kristen Auger, Gillis Tammy, Qin Xuebin, Liu Shumei, Donahue Leah R, Bronson Roderick T, Faust Jerry R, Stout Derek, Haines Jonathan L, Lerner Terry J, MacDonald Marcy E
Abstract excerpt
The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers spanning this approximately 4-Mb candidate interval to reveal a core haplotype, shared in Costa Rican families with vLINCL but not in a Venezuelan kindred, that...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Costa Rica
- DNA Mutational Analysis
- Exons
- Female