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Novel Timothy Syndrome Mutation Leading to Increase in CACNA1C Window Current
BACKGROUND: Timothy syndrome (TS) is a rare multi-system genetic disorder characterized by a myriad of abnormalities including QT prolongation, syndactyly, and neurological symptoms. The predominant genetic causes are recurrent de novo missense mutations in exon 8/8A of the CACNA1C-encoded L-type ca...
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Pubblicato in: | Heart Rhythm |
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Autori principali: | , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
2014
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Soggetti: | |
Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4907369/ https://ncbi.nlm.nih.gov/pubmed/25260352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2014.09.051 |
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