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

[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2008

Li Xiao-li, Peng Zhen-hui, Xiao Sheng-xiang, Liu Yan, Pan Min, Zhou Shao-na

Abstract excerpt

OBJECTIVE: To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chine...

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 Calcium-Transporting ATPases
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pemphigus, Benign Familial

Share to Sequence Alignment

Share to Sequence Deletion

Source

Identifiers

PMID: 18247307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18247307-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].PMID 18247307Read ↗

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

[Study on gene mutation in 11 Chinese families 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 ↗

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 ↗

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

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

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

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

Four novel mutations in ATP2C1 found in Chinese patients 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 ↗

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