CRISPR/cas9技术针对exon 2设计,产生了一个95bp的缺失(5' - CTTCAAAGCTTCACCTTTCTCCGAAGGCGGACGTGAAGAACTTGATTTCTTACGTGGTGACCAAGACAAGAGCGATTAACGGATCGTACCATCGT -3'),导致了框架移位、早发终止密码子以及isoform 1的敲除。(来源:J:331475)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count