A Novel Mutation of ORNT1 Detected in a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing
通过临床全外显子组测序在一名高鸟氨酸血症-高氨血症-同型瓜氨酸尿症患儿中检测到ORNT1基因的新突变
期刊:Journal of Pediatric Genetics
影响因子:0.4
doi:10.1055/s-0041-1742247
Laochareonsuk, Wison; Osatakul, Seksit; Intusoma, Utcharee; Maneechay, Wanwisa; Sangkhathat, Surasak