Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma
Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-exome sequencing was performed, followed by validat...
Main Authors: | , , , |
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Format: | Article |
Language: | zho |
Published: |
editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
2023-10-01
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Series: | Pifu-xingbing zhenliaoxue zazhi |
Subjects: | |
Online Access: | http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2023.05.004 |