Two patients with <scp>Hailey‐Hailey</scp> disease with novel pathogenic <i>ATP2C1</i> variants suggesting possible genotype/phenotype correlations-Reference-Cited by-同舟云学术

Two patients with Hailey‐Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations

Published:2023-12-19 Issue: Volume: Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Omi Michiya¹^ORCID,Takeichi Takuya¹²^ORCID,Ito Yasutoshi¹³^ORCID,Yoshikawa Takenori¹,Mizutani Yuki⁴⁵,Nagai Miki⁴,Seishima Mariko⁶⁷,Ogi Tomoo⁸⁹,Muro Yoshinao¹^ORCID,Akiyama Masashi¹^ORCID

Affiliation:

1. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan

2. Nagoya University Institute for Advanced Research Nagoya Japan

3. Department of Dermatology, National Hospital Organization Nagoya Medical Center Nagoya Japan

4. Gifu Prefectural General Medical Center Gifu Japan

5. Department of Dermatology, Graduate School of Medicine Mie University Tsu Japan

6. Department of Dermatology Asahi University Hospital Gifu Japan

7. Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan

8. Department of Genetics, Research Institute of Environmental Medicine (RIeM) Nagoya University Nagoya Japan

9. Department of Human Genetics and Molecular Biology Nagoya University Graduate School of Medicine Nagoya Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17081

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5. Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay