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FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle
Mutations in FAMIN cause arthritis and inflammatory bowel disease in early childhood, and a common genetic variant increases the risk for Crohn's disease and leprosy. We developed an unbiased liquid chromatography-mass spectrometry screen for enzymatic activity of this orphan protein. We report...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cell Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978800/ https://www.ncbi.nlm.nih.gov/pubmed/31978345 http://dx.doi.org/10.1016/j.cell.2019.12.017 |