将含有En2内1号 intron的基因捕获元件,包括一个splice接受器和带有poly(A)信号的β-geo cassette,插入到了exon 7中。通过 Western blot 分析,确实确认了杂合子上皮细胞中蛋白表达的降低。(来源:J:130064)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count