Homo sapiens Genome sequencing
收藏NIAID Data Ecosystem2026-03-11 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP090279
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资源简介：
We show that dominant mutations of a Cullin 3-Rbx1 ubiquitin ligase substrate receptor, KLHL24, cause epidermolysis bullosa (EB). We have identified start codon mutations in the KLHL24 gene in five EB patients.
创建时间：
2020-05-21
