Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

• Asıl Yazarlar: Yongfeng YAO (Yazar), Zhijie LUO (Yazar), Zeqiao ZHANG (Yazar), Fang YANG (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology, 2023-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...