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
β¦ LIBER β¦
Progress toward Positional Cloning of Ovine Neuronal Ceroid Lipofuscinosis, a Model of the Human Late-Infantile Variant CLN6
β Scribed by Murray F. Broom; Chaoming Zhou; Diana F. Hill
- Book ID
- 115639508
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 55 KB
- Volume
- 66
- Category
- Article
- ISSN
- 1096-7192
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## Abstract Mutations in __CLN6__ cause variant lateβonset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder resulting from aberrant neuronal cell loss and pathological accumulation of lysosomal autofluorescent storage material in the central nervous system. The direct
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