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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...

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Detalhes bibliográficos
Publicado no:Exp Biol Med (Maywood)
Main Authors: Han, Dan, Xue, Xiaolin, Yan, Yang, Li, Guoliang
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2019
Assuntos:
Acesso em linha: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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