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Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

โœ Scribed by Sleat, D. E.


Book ID
121158389
Publisher
American Association for the Advancement of Science
Year
1997
Tongue
English
Weight
525 KB
Volume
277
Category
Article
ISSN
0036-8075

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The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta