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

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

Journal of dermatological science - 1 Feb 2016

Takeichi Takuya, Sugiura Kazumitsu, Tso Simon, Simpson Michael A, McGrath John A, Akiyama Masashi

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 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Codon, Nonsense
Share to DNA Mutational Analysis
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

Share to Lipid Metabolism, Inborn Errors

Share to Muscular Diseases

Share to Severity of Illness Index

Source

Identifiers

PMID: 26547112
DOI: 10.1016/j.jdermsci.2015.10.015

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

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.PMID 26547112Read ↗

Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.Semantic proximity Read ↗

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneSemantic proximity Read ↗

Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.Semantic proximity Read ↗

Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.Semantic proximity Read ↗

Non-syndromic dominant DFNA1.Semantic proximity Read ↗

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.Semantic proximity Read ↗

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.Semantic proximity Read ↗

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomesSemantic proximity Read ↗

A BHD germline mutation identified in an Asian family with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndromeSemantic proximity Read ↗

Contributions to the MODY5 phenotype.Semantic proximity Read ↗

RHD Tyr311Stop encoded by a novel nonsense mutation.Semantic proximity Read ↗

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