Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family

Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20–40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however, some remain elusive. In this study, we used a combination of NGS, human-indu...

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Detalles Bibliográficos
Autores principales: Sedaghat-Hamedani, Farbod, Rebs, Sabine, Kayvanpour, Elham, Zhu, Chenchen, Amr, Ali, Müller, Marion, Haas, Jan, Wu, Jingyan, Steinmetz, Lars M., Ehlermann, Philipp, Streckfuss-Bömeke, Katrin, Frey, Norbert, Meder, Benjamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602549/
https://www.ncbi.nlm.nih.gov/pubmed/36293084
http://dx.doi.org/10.3390/ijms232012230

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