设计了一个靶向载体,用于在exon 14下游引入带有M1248T和L1193V突变的Met exon 14-20 cDNA,将ATG和CTT密码子替换为ACG和GTT。RT-PCR和免疫印迹结果显示,Met RNA和蛋白的表达与野生型相当。(来源:J:94722)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count