Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
由于 PHGDH 单倍体不足导致的丝氨酸生物合成缺陷引起视网膜疾病
期刊:Nature Metabolism
影响因子:18.9
doi:10.1038/s42255-021-00361-3
Kevin Eade #, Marin L Gantner #, Joseph A Hostyk #, Takayuki Nagasaki #, Sarah Giles, Regis Fallon, Sarah Harkins-Perry, Michelle Baldini, Esther W Lim, Lea Scheppke, Michael I Dorrell, Carolyn Cai, Evan H Baugh, Charles J Wolock, Martina Wallace, Rebecca B Berlow, David B Goldstein, Christian M Met