Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
Kevin Eade, Marin L. Gantner, Joseph Hostyk, Takayuki Nagasaki, Sarah Giles, Regis Fallon, Sarah Harkins‐Perry, M 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. Metallo, Martin Friedlander, Rando Allikmets
Topics & Concepts
SerineBiologyHaploinsufficiencyRetinalLocus (genetics)GeneBiosynthesisPhenotypeGeneticsEnzymeBiochemistryLysosomal Storage Disorders ResearchRenal Diseases and GlomerulopathiesCellular transport and secretion