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Splicing Variants in Sheep CLN3, the Gene Underlying Juvenile Neuronal Ceroid Lipofuscinosis

✍ Scribed by Manfred J. Oswald; David N. Palmer; Sami Damak


Book ID
115639533
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
115 KB
Volume
67
Category
Article
ISSN
1096-7192

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The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative diseases comprising Batten and other related diseases plus numerous variants. They are characterized by progressive neuronal cell death. The CLN6 gene was recently identified, mutations in wh