Exon 1通过sgRNA(靶向TGAAACCAGCAAGAAGAACG)和ssODN模板进行编辑,模板中在lysine 53的密码子位置插入了一个A到T的突变,导致了提前终止翻译(p.K53*)。这是CRISPR/Cas9技术的应用。(来源:J:301313)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count