Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, in...

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Detalles Bibliográficos
Autores principales: Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope E., Bratkovic, Drago, Carrozzo, Rosalba, Donati, Maria A., Di Nottia, Michela, Ghezzi, Daniele, Goldstein, Amy, Haan, Eric, Horvath, Rita, Hughes, Joanne, Invernizzi, Federica, Lamantea, Eleonora, Lucas, Benjamin, Pinnock, Kyla‐Gaye, Pujantell, Maria, Rahman, Shamima, Rebelo‐Guiomar, Pedro, Santra, Saikat, Verrigni, Daniela, McFarland, Robert, Prokisch, Holger, Taylor, Robert W., Levinger, Louis, Minczuk, Michal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764886/
https://www.ncbi.nlm.nih.gov/pubmed/31045291
http://dx.doi.org/10.1002/humu.23777

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