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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Pubblicato in:	Am J Hum Genet
Autori principali:	Wheeler, Ruth B., Sharp, Julie D., Schultz, Roger A., Joslin, John M., Williams, Ruth E., Mole, Sara E.
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2001
Soggetti:	Report
Accesso online:	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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