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Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product

✍ Scribed by Yukiko Kurachi; Akira Oka; Masayuki Itoh; Masashi Mizuguchi; Masaharu Hayashi; Sachio Takashima

Book ID
106074220
Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
215 KB
Volume
102
Category
Article
ISSN
0001-6322

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Protein product of CLN6 gene responsible
Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2
✍ Jared W. Benedict; Amanda L. Getty; Thomas M. Wishart; Thomas H. Gillingwater; D πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 376 KB

## Abstract Mutations in __CLN6__ cause variant late‐onset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder resulting from aberrant neuronal cell loss and pathological accumulation of lysosomal autofluorescent storage material in the central nervous system. The direct