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

Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues.

Acta dermato-venereologica - 1 Mar 2015

Kaibuchi-Noda Kana, Sugiura Kazumitsu, Takeichi Takuya, Miura Shunsuke, Kagami Shinji, Takama Hiromichi, Hino Haruko, Akiyama Masashi

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 Mutation, Missense
Share to Binding Sites
Share to Biopsy
Share to Calcium

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Darier Disease

Share to Heterozygote

Share to Sarcoplasmic Reticulum Calcium-Transporting ATPases

Source

Identifiers

PMID: 24979555
DOI: 10.2340/00015555-1927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Darier's disease: a novel ATP2A2 missense mutation at one of the calcium-binding residues.PMID 24979555Read ↗

Novel ATP2A2 mutation in a patient with Darier's disease.Semantic proximity Read ↗

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.Semantic proximity Read ↗

A novel mutation in exon 1 of the ATP2A2 gene in four members of one Chinese family with Darier disease.Semantic proximity Read ↗

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.Semantic proximity Read ↗

Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.Semantic proximity Read ↗

Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease.Semantic proximity Read ↗

Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease.Semantic proximity Read ↗

A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease.Semantic proximity Read ↗

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.Semantic proximity Read ↗

Novel ATP2A2 mutation in a large Chinese pedigree with extensive Darier's disease.Semantic proximity Read ↗

Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene.Semantic proximity Read ↗

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.Semantic proximity Read ↗

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