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

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

Journal of dermatological science - 1 Dec 2014

Lu Chaoxia, Liu Jie, Liu Fang, Liu Yaping, Ma Donglai, Zhang Xue

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 Asian People
Share to ATP-Binding Cassette Transporters
Share to China
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Mutation, Missense

Share to Pigmentation Disorders

Share to Skin Diseases, Genetic

Source

Identifiers

PMID: 25288164
DOI: 10.1016/j.jdermsci.2014.08.015

Genes

ABCB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.PMID 25288164Read ↗

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.Semantic proximity Read ↗

Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.Semantic proximity Read ↗

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.Semantic proximity Read ↗

Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Pathogenicity of ADAR1 mutation in a Chinese family with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient.Semantic proximity Read ↗

The ABCA subfamily—gene and protein structures, functions and associated hereditary diseasesSemantic proximity Read ↗

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.Semantic proximity Read ↗

Novel de novo heterozygous frameshift mutation of the ADAR1 gene in heavy dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Dyschromatosis symmetrica hereditaria: a case report from Turkey, a new association and a novel gene mutation.Semantic proximity Read ↗

A novel splice site mutation in the ADAR gene leading to exon skipping and dyschromatosis symmetrica hereditaria in a Japanese patient.Semantic proximity Read ↗

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