Novel and Founder Variants of SERPINA12 in Chinese Patients with Autosomal Recessive Palmoplantar Keratoderma
Novel and Founder Variants of SERPINA12 in Chinese Patients with Autosomal Recessive Palmoplantar Keratoderma
复制标题
中国常染色体隐性遗传性掌跖角化症患者中 SERPINA12 的新变体和创始变体
DOI：
10.1111/bjd.21064
复制
发表时间：
2022
影响因子：
10.3
通讯作者：
Yong Yang
中科院分区：
文献类型：
--
作者：
Yihe Liu;Yingjian Tan;Juan Liu;Zhongya Song;Linghan Hu;Ran Mo;Zhiming Chen;Yong Yang
1. We extend the spectrum ofSERPINA12variants 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. ConsiderableSERPINA12‐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.
