Identification of two novel MVD mutations and one novel FDPS mutation in Chinese patients with porokeratosis
This research has expanded the database of mevalonate pathway genes associated with PK, thereby improving our comprehension of the fundamental mechanisms involved.
Authors
- Yang He (ORCID: https://orcid.org/0000-0002-4952-6877)
- Chunming Li (ORCID: https://orcid.org/0000-0003-4689-8082)
- Shengcai Zhu
- Yunxia Zhu
- Quan Wei
- Liang Wu
- Fan Ye
- Xiaoliang Ouyang
Institutions
- Nanchang University (CN)
- First Affiliated Hospital of Jiangxi Medical College (CN)
- Second Affiliated Hospital of Nanchang University (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2026-01-29
- DOI
- https://doi.org/10.3389/fmed.2026.1760287
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Jiangxi Province