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Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of mul...

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Detalles Bibliográficos
Autores principales:	Shukla, Anju, Hebbar, Malavika, Srivastava, Anshika, Kadavigere, Rajagopal, Upadhyai, Priyanka, Kanthi, Anil, Brandau, Oliver, Bielas, Stephanie, Girisha, Katta M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484744/ https://www.ncbi.nlm.nih.gov/pubmed/28356563 http://dx.doi.org/10.1038/jhg.2017.35

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