使用CRISPR/Cas9技术,通过一个crRNA(AGUGAUGGGUCUGUGUAUAGGUUUUAGAGCUAUGCUGUUUUG),在exon 1的编码区域创建了一个2个碱基的缺失( TA),导致了移位和早停密码子。(来源:J:313659)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count