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Highlight article: Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside
Timothy syndrome is a rare disorder caused by CACNA1C gene mutations and characterized by multi-organ system dysfunctions, including ventricular arrhythmias, syndactyly, dysmorphic facial features, intermittent hypoglycemia, immunodeficiency, developmental delay, and autism. Because of the low morbi...
שמור ב:
| הוצא לאור ב: | Exp Biol Med (Maywood) |
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| Main Authors: | , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
SAGE Publications
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6879774/ https://ncbi.nlm.nih.gov/pubmed/31324123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1535370219863149 |
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