Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. U...

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Detalles Bibliográficos
Autores principales: Limongelli, Giuseppe, Nunziato, Marcella, Mazzaccara, Cristina, Intrieri, Mariano, D’Argenio, Valeria, Esposito, Maria Valeria, Monda, Emanuele, Di Maggio, Federica, Frisso, Giulia, Salvatore, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288460/
https://www.ncbi.nlm.nih.gov/pubmed/32397162
http://dx.doi.org/10.3390/genes11050524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288460/
https://www.ncbi.nlm.nih.gov/pubmed/32397162
http://dx.doi.org/10.3390/genes11050524

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