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 case of Hailey-Hailey disease with novel ATP2C1 gene variant (c.G925C) showing unusual phenotype.

The Journal of dermatology - 1 Oct 2024

Minakawa Satoko, Matsuzaki Yasushi, Higashino Toshihide, Yamada Nanako, Suzuki Tamio, Akasaka Eijiro, Sawamura Daisuke

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 Calcium-Transporting ATPases
Share to Mutation, Missense
Share to Pemphigus, Benign Familial
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38711270
DOI: 10.1111/1346-8138.17258

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 case of Hailey-Hailey disease with novel ATP2C1 gene variant (c.G925C) showing unusual phenotype.PMID 38711270Read ↗

Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations.Semantic proximity Read ↗

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.Semantic proximity Read ↗

Hailey-Hailey disease with affective disorder: report of a case with novel ATP2C1 gene mutation.Semantic proximity Read ↗

Hailey-Hailey disease with a novel variant, c.1978dupG, in the ATP2C1 gene.Semantic proximity Read ↗

Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease.Semantic proximity Read ↗

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

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

A novel deletion mutation in the ATP2C1 gene in a case of generalized Hailey-Hailey disease possibly aggravated by scabies infection.Semantic proximity Read ↗

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

Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease.Semantic proximity Read ↗

Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease.Semantic proximity Read ↗

Elderly-onset type 1 mosaic form of Hailey-Hailey disease with a postzygotic variant in ATP2C1.Semantic proximity Read ↗

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