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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

Human genetics - 1 Jun 2008

Kohan Romina, Cannelli Natalia, Aiello Chiara, Santorelli Filippo M, Cismondi Adriana I, Milà Montserrat, Oller Ramírez Ana M, Halac Inés Noher

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Identifiers

PMID: 20960652

Genes

CLN5

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Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.PMID 20960652Read ↗

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.Semantic proximity Read ↗

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First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant through Whole Genome SequencingSemantic proximity Read ↗

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.Semantic proximity Read ↗

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.Semantic proximity Read ↗

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brainSemantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.Semantic proximity Read ↗

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

The genetic spectrum of human neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

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