A novelCLN2/TPP1mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis
β Scribed by Yu-Liang Wang; Zhi-Yong Zeng; Xing-Wang Song; Zhuo-Fang Hao; Yi-Wu Shi; Bin Tang; Sheng-Qiang Chen; Mei-Mei Gao; Wei Di; Yue-Sheng Long; Yong-Hong Yi; Wei-Ping Liao
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 257 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1364-6745
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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
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