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Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene

✍ Scribed by Jaana M. Hartikainen; Weina Ju; Krystyna E. Wisniewski; Dorota N. Moroziewicz; Alexandra L. Kaczmarski; Lucille McLendon; David Zhong; Carolin T. Suarez; W.Ted Brown; Nan Zhong


Book ID
115639538
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
384 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