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Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis

✍ Scribed by Nan Zhong; ; E. Wisniewski; Jaana Hartikainen; Weina Ju; Dorota N. Moroziewicz; Lucille McLendon; Susan Sklower Brooks; W Ted Brown


Book ID
110887863
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
450 KB
Volume
54
Category
Article
ISSN
0009-9163

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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