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Superoxide dismutase, catalase and glutathione peroxidase in infantile, late infantile and juvenile neuronal ceroid-lipofuscinosis

✍ Scribed by Stefan L. Marklund; Pirkko Santavuori; Tuomas Westermarck


Book ID
115823349
Publisher
Elsevier Science
Year
1981
Tongue
English
Weight
525 KB
Volume
116
Category
Article
ISSN
0009-8981

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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