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

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

Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia - 1 Oct 2016

Chiavetta Valeria, Romano Corrado, Calì Francesco, Ruggeri Giuseppa, Siragusa Maddalena, Greco Donatella, Romano Valentino, Schepis Carmelo

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 Darier Disease
Share to Mutation
Share to RNA Splice Sites

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Sarcoplasmic Reticulum Calcium-Transporting ATPases

Source

Identifiers

PMID: 27595213

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.PMID 27595213Read ↗

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

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

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

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

Novel mutation of the ATP2A2 gene in a case of Darier's disease featuring erosive lesions.Semantic proximity Read ↗

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

The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation.Semantic proximity Read ↗

Late-onset comedonal Darier disease with a novel frameshift mutation in ATP2A2.Semantic proximity Read ↗

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.Semantic proximity Read ↗

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

A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease.Semantic proximity Read ↗

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