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

Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2010

Cheng T S, Ho K M, Lam C W

Abstract excerpt

BACKGROUND: Hailey-Hailey disease (HHD) is a rare autosomal dominant dermatosis. It causes suprabasilar acantholysis leading to vesicular and crusted erosions affecting the flexures. Mutation of ATP2C1 gene encoding the human secretory pathway Ca(2+) /Mn(2+) -ATPase (hSPCA1) was identified to be the cause of this entity. OBJECTIVE: The aim of this study was to study the mutational profile of the ATP2C1 gene in...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Calcium-Transporting ATPases
Share to Hong Kong

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pemphigus, Benign Familial

Share to Sequence Deletion

Share to Severity of Illness Index

Source

Identifiers

PMID: 20236194
DOI: 10.1111/j.1468-3083.2010.03623.x

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.PMID 20236194Read ↗

Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease.Semantic proximity Read ↗

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 ↗

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 ↗

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

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.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 ↗

Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.Semantic proximity Read ↗

Genetic diagnosis of Hailey-Hailey disease in two Chinese families: novel mutations in the ATP2C1 gene.Semantic proximity Read ↗

A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family.Semantic proximity Read ↗

Identification of Novel ATP2C1 Mutations in a Spanish Cohort of Patients With Hailey-Hailey Disease.Semantic proximity Read ↗

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.Semantic proximity Read ↗

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