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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

The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by the accumulation of autofluorescent lipopigment in various tissues and by progressive cell death in the brain and retina. The gene for variant late-infantile NCL (vLINCL), CLN6, w...

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Udgivet i:Am J Hum Genet
Principais autores: Wheeler, Ruth B., Sharp, Julie D., Schultz, Roger A., Joslin, John M., Williams, Ruth E., Mole, Sara E.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2001
Fag:
Report
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC384927/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11727201/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/338708
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