CRISPR/Cas9技术被用来产生了无义等位基因。测序结果显示了多个无义等位基因,包括c.-33_125_129delinsCTGTCTGTTT、c.-33_125_147del、c.258dupC和c.234_257del。不过,#号表示未指定具体线系或存在线系混合。 Western blot分析确认了纯合子中蛋白质的缺失。(来源:J:273099)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count