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A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

✍ Scribed by Tomoyuki Awano; Martin L. Katz; Dennis P. O’Brien; Jeremy F. Taylor; Jason Evans; Shahnawaz Khan; Istvan Sohar; Peter Lobel; Gary S. Johnson


Book ID
116987787
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
489 KB
Volume
87
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