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Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
BACKGROUND: Thoracic aortic aneurysm and dissection (TAAD) is a common condition associated with high mortality. It is predominantly inherited in an autosomal dominant manner with reduced penetrance and variable expression. The genetic basis of the majority of TAAD cases remains unknown. CASE PRESEN...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303953/ https://www.ncbi.nlm.nih.gov/pubmed/30577811 http://dx.doi.org/10.1186/s12881-018-0735-1 |