Summary of JAG1 mutations identified in patients.
收藏Figshare2015-12-03 更新2026-04-29 收录
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Novel variants are in bold font; cases previously reported are in italic font. Conserved regions of JAG1 protein include the signal peptide (SP), the delta-serrate-lin12-like region (DSL), epidermal growth factor (EGF)-like repeats, the cysteine-rich (CR) region, and the transmembrane (TM) domain; 5´ of DSL: the region between SP and DSL domain; 5´ of TM: the region between CR and TM.het: heterozygous; MPLA: multiplex-ligation-dependent probe amplification; ND: not done.Summary of JAG1 mutations identified in patients.
创建时间：
2015-12-03
