# A novel ATP2C1 mutation (c.1840-1G>A) in a sporadic case of isolated perianal Hailey-Hailey disease with human papillomavirus type 58 infection

**Authors:** Yao Zhu, Yi-Ming Fan, Yan-Xia Cai, Yong-Hua Chen, Fang Qiu

PMC · DOI: 10.1016/j.abd.2022.12.011 · Anais Brasileiros de Dermatologia · 2024-04-17

## Full-text entities

- **Genes:** ATP2C1 (ATPase secretory pathway Ca2+ transporting 1) [NCBI Gene 27032] {aka ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1}
- **Diseases:** perianal Hailey-Hailey disease (MESH:D016506)
- **Mutations:** c.1840-1G>A

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Source: https://tomesphere.com/paper/PMC11221149