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Structural Organization and Sequence ofCLN2,the Defective Gene in Classical Late Infantile Neuronal Ceroid Lipofuscinosis

✍ Scribed by Chang-Gong Liu; David E. Sleat; Robert J. Donnelly; Peter Lobel


Book ID
115614339
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
274 KB
Volume
50
Category
Article
ISSN
0888-7543

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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