在exon 15的arginine(685位点)被替换为alanine(685位点的阿尔法)使用了一条crRNA(针对AAGGTTTAGGGACACTTACTCGG)和ssODN模板,通过CRISPR/Cas9技术。这个突变消除了PTP1B的结合,进而导致NTRK1的去磷酸化。(来源:J:338830)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count