Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I deficiency. Here, we report two siblings and two unrelated subjects with Leigh syndrome, in which we found the same compound heterozygous missens...

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Detalles Bibliográficos
Autores principales: Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071912/
https://www.ncbi.nlm.nih.gov/pubmed/29531337
http://dx.doi.org/10.1038/s10038-018-0423-1

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