Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical genetics - 1 Jun 2012

Allen N M, O'hIci B, Anderson G, Nestor T, Lynch S Ann, King M D

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 8
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mutation

Share to Neuronal Ceroid-Lipofuscinoses

Source

Identifiers

PMID: 22220808
DOI: 10.1111/j.1399-0004.2011.01777.x

Genes

CLN8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.PMID 22220808Read ↗

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

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.Semantic proximity Read ↗

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

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

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

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

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

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

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.