The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference20 articles.
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4. Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6;Broom;Europ J Paediatr Neurol Suppl A,2001
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1. Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6;Animal Genetics;2024-06-12
2. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6;Genes;2024-05-23
3. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07
4. Whole Exome Sequencing Identifies Variable Expression of CLN6Variants in PME Affected Families;Epilepsy Research;2023-12
5. Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease;Scientific Reports;2023-10-29
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