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A Variant Form of Neuronal Ceroid Lipofuscinosis in American Bulldogs

✍ Scribed by Jason Evans; Martin L. Katz; Donald Levesque; G. Diane Shelton; Alexander de Lahunta; Dennis O'Brien

Book ID
118094208
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
539 KB
Volume
19
Category
Article
ISSN
0891-6640

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✍ Julie D. Sharp; Ruth B. Wheeler; Keith A. Parker; R. Mark Gardiner; Ruth E. Will πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 171 KB

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