Genetic analysis of Pycr1 and Pycr2 in mice

The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate reductases, PYCR1, PYCR2, and PYCR3, which convert pyrroline-5-carboxylate (P5C) to proline. Mutations in human PYCR1 and ALDH18A1 (P5C Synthetase) cause Cutis Laxa (CL), whereas mutations in PYCR2 cause hypomyelina...

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Detalhes bibliográficos
Publicado no:Genetics
Main Authors: Stum, Morgane G, Tadenev, Abigail L D, Seburn, Kevin L, Miers, Kathy E, Poon, Pak P, McMaster, Christopher R, Robinson, Carolyn, Kane, Coleen, Silva, Kathleen A, Cliften, Paul F, Sundberg, John P, Reinholdt, Laura G, John, Simon W M, Burgess, Robert W
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8128379/
https://ncbi.nlm.nih.gov/pubmed/33734376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/genetics/iyab048
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