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A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

✍ Scribed by Rosalucia Mazzei; Francesca L. Conforti; Angela Magariello; Carmela Bravaccio; Roberto Militerni; Anna L. Gabriele; Simone Sampaolo; Alessandra Patitucci; Giuseppe Di Iorio; Maria Muglia; Aldo Quattrone

Book ID
106091941
Publisher
Springer
Year
2002
Tongue
English
Weight
252 KB
Volume
249
Category
Article
ISSN
0340-5354

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πŸ“œ SIMILAR VOLUMES

Novel mutations in the CLN6 gene causing
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis
✍ Carla A. Teixeira; Janice Espinola; Liang Huo; Johannes KohlschΓΌtter; Dixie-Ann πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 185 KB

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