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The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

✍ Scribed by Ruth B. Wheeler; Julie D. Sharp; Roger A. Schultz; John M. Joslin; Ruth E. Williams; Sara E. Mole

Book ID: 117853806
Publisher: American Society of Human Genetics
Year: 2002
Tongue: English
Weight: 616 KB
Volume: 70
Category: Article
ISSN: 0002-9297
DOI: 10.1086/338708

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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