CRISPR/cas9基因编辑通过引导RNA(GTCATTTTGCTGTCGCGGTA, TCCTCGTCATTTTGCTGTCG)引入R280C(CGC到TGC)的敲入突变,以及在exon 10的silent Y279Y(从TAC到TAT)的沉默变异。(来源:J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count