Exon 1和exon1-intron 1的边界通过CRISPR/Cas9技术用sgRNAs(针对TATGGGAACTTTGCTGTCGGTGG和GACCTGGACATTCGGTGAGGAGG)进行靶向,产生了包含exon 1编码区3'端的227bp缺失。(来源:J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count