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Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Academic Article
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Overview

authors

  • Eade, K.
  • Gantner, M. L.
  • Hostyk, J. A.
  • Nagasaki, T.
  • Giles, S.
  • Fallon, R.
  • Harkins-Perry, S.
  • Baldini, M.
  • Lim, E. W.
  • Scheppke, L.
  • Dorrell, M. I.
  • Cai, C. R.
  • Baugh, E. H.
  • Wolock, C. J.
  • Wallace, M.
  • Berlow, R. B.
  • Goldstein, D. B.
  • Metallo, C. M.
  • Friedlander, Martin
  • Allikmets, R.

publication date

  • March 22, 2021

journal

  • Nature Metabolism  Journal

subject areas

  • Cohort Studies
  • Haploinsufficiency
  • Humans
  • Phenotype
  • Phosphoglycerate Dehydrogenase
  • Retinal Pigment Epithelium
  • Retinal Telangiectasis
  • Serine
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Identity

PubMed Central ID

  • PMC8084205

Digital Object Identifier (DOI)

  • 10.1038/s42255-021-00361-3

PubMed ID

  • 33758422
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Additional Document Info

start page

  • 366

end page

  • U124

volume

  • 3

issue

  • 3

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