Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy

Increasing evidence suggests that both coding and non-coding regions of sarcomeric protein genes can contribute to hypertrophic cardiomyopathy (HCM). Here, we introduce an experimental workflow (tested on four patients) for complete sequencing of the most common HCM genes (MYBPC3, MYH7, TPM1, TNNT2,...

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Detalles Bibliográficos
Autores principales: Salakhov, Ramil R., Golubenko, Maria V., Valiakhmetov, Nail R., Pavlyukova, Elena N., Zarubin, Aleksei A., Babushkina, Nadezhda P., Kucher, Aksana N., Sleptcov, Aleksei A., Nazarenko, Maria S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779642/
https://www.ncbi.nlm.nih.gov/pubmed/36555486
http://dx.doi.org/10.3390/ijms232415845

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779642/
https://www.ncbi.nlm.nih.gov/pubmed/36555486
http://dx.doi.org/10.3390/ijms232415845

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