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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.

Human genetics - 1 Oct 2008

Cismondi I Adriana, Kohan Romina, Ghio Addy, Ramirez Ana M Oller, Halac Inés Noher

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Identifiers

PMID: 18846690

Genes

CLN6

Provenance

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Related research

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Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.PMID 18846690Read ↗

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

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.Semantic proximity Read ↗

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.Semantic proximity Read ↗

[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations].Semantic proximity Read ↗

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.Semantic proximity Read ↗

CLN6-related continuum phenotype caused by aberrant splicing.Semantic proximity Read ↗

A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.Semantic proximity Read ↗

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