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Article

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

American journal of medical genetics - 1 Mar 2001

Lam C W, Poon P M, Tong S F, Ko C H

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PMID: 11241479
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1145>3.0.co;2-z

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Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.PMID 11241479Read ↗

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

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

Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.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 ↗

Neuronal ceroid lipofuscinoses.Semantic 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 ↗

Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.Semantic proximity Read ↗

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.Semantic proximity Read ↗

Novel CLN5 Mutation in Neuronal Ceroid Lipofuscinosis Type 5.Semantic proximity Read ↗

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