A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whet...

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Publicado en:Int J Mol Sci
Autores principales: Rubattu, Speranza, Bozzao, Cristina, Pennacchini, Ermelinda, Pagannone, Erika, Musumeci, Beatrice Maria, Piane, Maria, Germani, Aldo, Savio, Camilla, Francia, Pietro, Volpe, Massimo, Autore, Camillo, Chessa, Luciana
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5000637/
https://ncbi.nlm.nih.gov/pubmed/27483260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms17081239
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