Related Experiment Video
Updated: Oct 2, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma
Yihe Liu1, Yingjian Tan1, Juan Liu2,3
1Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
Abstract:
1. We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2. The recurrent variant c.970_971del, mainly prevalent in the East Asia population, was proved to be a founder variant. 3. Considerable SERPINA12-related palmoplantar keratoderma patients could be identified from autosomal recessive, non-mutilating, diffused palmoplantar keratoderma patients. 4. Other serpin family members or their co-effect may participate in the etiologies of underexplored hereditary palmoplantar keratodermas.
More Related Videos
07:29Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
Published on: May 16, 2020
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Cytoskeletal Linker Proteins - Plakins