The neuronal ceroid lipofuscinoses (NCL) are a group of fatal autosomal recessive neurodegenerative diseases occurring in human and some domesticated animal species. A canine form of the disease (CNCL) has been extensively studied in a Norwegian colony of inbred English setters since 1960. A resourc
A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
β Scribed by Martin L. Katz; Shahnawaz Khan; Tomoyuki Awano; S. Adam Shahid; Aristotle N. Siakotos; Gary S. Johnson
- Book ID
- 116289734
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 409 KB
- Volume
- 327
- Category
- Article
- ISSN
- 0006-291X
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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 late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in C