Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

PURPOSE: Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing 51 additional genes for hypertrophic cardiomyo...

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Detalles Bibliográficos
Autores principales: Thomson, Kate L., Ormondroyd, Elizabeth, Harper, Andrew R., Dent, Tim, McGuire, Karen, Baksi, John, Blair, Edward, Brennan, Paul, Buchan, Rachel, Bueser, Teofila, Campbell, Carolyn, Carr-White, Gerald, Cook, Stuart, Daniels, Matthew, Deevi, Sri V. V., Goodship, Judith, Hayesmoore, Jesse B. G, Henderson, Alex, Lamb, Teresa, Prasad, Sanjay, Rayner-Matthews, Paula, Robert, Leema, Sneddon, Linda, Stark, Hannah, Walsh, Roddy, Ware, James S., Farrall, Martin, Watkins, Hugh C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614037/
https://www.ncbi.nlm.nih.gov/pubmed/30531895
http://dx.doi.org/10.1038/s41436-018-0375-z

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