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Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy
The authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and niece. Those affected all share a very similar ph...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2020-04-01
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| Colecção: | Revista Portuguesa de Cardiologia (English Edition) |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2174204920301744 |
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