Identification of Novel KRT5 Gene Variants in Two Chinese Sporadic Cases of Epidermolysis Bullosa Simplex
收藏NIAID Data Ecosystem2026-05-01 收录
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资源简介：
This study aimed to identify pathogenic gene variants in two Chinese sporadic cases of EBS. Blood samples were collected from the patients and their parents, and next-generation sequencing (NGS) was used for variant screening. Two novel variants within the KRT5 gene were identified: c.1399A>T (p.Ile467Phe) in patient 1 and c.1412G>A (p.Arg471His) in patient 2.
创建时间：
2023-12-18
