Sporadic case of Darier disease caused by a novel splice-site mutation in the ATP2A2 gene

Clin Exp Dermatol. 2019 Mar;44(2):e10-e12. doi: 10.1111/ced.13806. Epub 2018 Oct 7.

Authors

S Yasuno¹, Y Miyoshi¹, N Asano¹, T Okita¹, M Yamaguchi¹, N Shimomura¹, K Kashiwagi¹, Y Shimomura¹

Affiliation

¹ Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, Japan.

PMID: 30294936
DOI: 10.1111/ced.13806

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Aged
Darier Disease / genetics*
Darier Disease / pathology
Female
Humans
Mutation
Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*

Substances

Sarcoplasmic Reticulum Calcium-Transporting ATPases
ATP2A2 protein, human