טוען...
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Oxford University Press
2014
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| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4132650/ https://ncbi.nlm.nih.gov/pubmed/24993959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu179 |
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