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Asp263 missense variants perturb the active site of human phosphoglucomutase 1 (PGM1)
The enzyme phosphoglucomutase 1 (PGM1) plays a central role in glucose homeostasis. Clinical studies have identified mutations in human PGM1 as the cause of PGM1 deficiency, an inherited metabolic disease. One residue, Asp263, has two known variants associated with disease: D263G and D263Y. Biochemi...
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| Vydáno v: | FEBS J |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5802412/ https://ncbi.nlm.nih.gov/pubmed/28117557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/febs.14025 |
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