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

Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.

Archives of dermatological research - 1 Mar 2012

Zhang Dingwei, Li Xiaoli, Xiao Shengxiang, Huo Jia, Wang Shuang, Zhou Pengjun

Abstract excerpt

The gene ATP2C1 is identified as the defective gene in Hailey-Hailey disease (HHD). The nonsense and missense are two common types of mutations and have, respectively, been detected in many HHD patients. The aims of our study were to identify the pathogenic ATP2C1 abnormality in Chinese HHD patients, and to compare nonsense and missense mutations in vivo to provide further understanding of the molecular and the...

Read the complete abstract on PubMed

Topics

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

Share to Asymptomatic Diseases
Share to Calcium-Transporting ATPases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Disease Progression

Share to Genetic Association Studies

Share to Haploinsufficiency

Share to Mutation, Missense

Share to Pemphigus, Benign Familial

Source

Identifiers

PMID: 22124882
DOI: 10.1007/s00403-011-1185-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection and comparison of two types of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.PMID 22124882Read ↗

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.Semantic proximity Read ↗

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.Semantic proximity Read ↗

[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].Semantic proximity Read ↗

[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].Semantic proximity Read ↗

Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene.Semantic proximity Read ↗

A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey–Hailey diseaseSemantic proximity Read ↗

Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease.Semantic proximity Read ↗

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.Semantic proximity Read ↗

Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.Semantic proximity Read ↗

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression LevelsSemantic proximity Read ↗

Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease.Semantic proximity Read ↗

[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].Semantic proximity Read ↗

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