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Two novel mutations of SERPINB7 in eight cases of Nagashima‐type palmoplantar keratosis in the Chinese population

Nagashima‐type palmoplantar keratosis (NPPK) is a diffuse, autosomal recessive, and non‐epidermolytic palmoplantar keratosis caused by mutations in the SERPINB7 gene, a member of the serine protease inhibitor superfamily. Genetic studies and case reports suggest that NPPK is the most common palmopla...

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Detalles Bibliográficos
Autores principales: Xiao, Tong, Liu, Yan, Wang, Tian, Ren, Junru, Xia, Yumin, Wang, Xiaopeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303684/
https://www.ncbi.nlm.nih.gov/pubmed/35178744
http://dx.doi.org/10.1111/1346-8138.16310