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The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting

Mutations in the gene encoding CLN5 are the cause of Finnish variant late infantile Neuronal Ceroid Lipofuscinosis (NCL), and the gene encoding CLN5 is 1 of 10 genes (encoding CLN1 to CLN9 and cathepsin D) whose germ line mutations result in a group of recessive disorders of childhood. Although CLN5...

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Bibliografski detalji
Glavni autori: Mamo, Aline, Jules, Felix, Dumaresq-Doiron, Karine, Costantino, Santiago, Lefrancois, Stephane
Format: Artigo
Jezik:Inglês
Izdano: American Society for Microbiology 2012
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3347407/
https://ncbi.nlm.nih.gov/pubmed/22431521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.06726-11
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