Associated Papers
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.
Luo S et al.
Frontiers in Genetics, 2020
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.
Ge L et al.
Journal of Child Neurology, 2018
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
Bessa C et al.
Molecular Genetics and Metabolism, 2006
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain.
Holmberg V et al.
Neurobiology of Disease, 2004
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