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

Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.

Journal of dermatological science - 1 May 2008

Zhang Furen, Liu Hong, Jiang Deke, Tian Hongqing, Wang Changyuan, Yu Long

Abstract excerpt

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominantly inherited dermatosis and characterized by a mixture of hyperpigmented and hypopigmented macules on the back of hands and feet. The DSH locus was mapped to chromosome 1q21 and subsequently pathogenic mutations were identified in the adenosine deaminase acting on RNA1 (ADAR1) gene in 2003. OBJECTIVE: In this study, we performed a...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Frameshift Mutation

Share to Mutation, Missense

Share to Pigmentation Disorders

Share to RNA-Binding Proteins

Share to Skin Diseases, Genetic

Source

Identifiers

PMID: 18243666
DOI: 10.1016/j.jdermsci.2007.11.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.PMID 18243666Read ↗

Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

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

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).Semantic proximity Read ↗

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.Semantic proximity Read ↗

Identification of Five Novel Variants of ADAR1 in Dyschromatosis Symmetrica Hereditaria by Next-generation SequencingSemantic proximity Read ↗

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.Semantic proximity Read ↗

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.Semantic proximity Read ↗

Ten novel mutations of the ADAR1 gene in Japanese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

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