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Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants
Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. Genetic variants in MAOA need functional confirmation to enable...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | JIMD Rep |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley & Sons, Inc.
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7932864/ https://ncbi.nlm.nih.gov/pubmed/33728254 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12194 |
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