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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Hum Genet
Prif Awduron: Shukla, Anju, Hebbar, Malavika, Srivastava, Anshika, Kadavigere, Rajagopal, Upadhyai, Priyanka, Kanthi, Anil, Brandau, Oliver, Bielas, Stephanie, Girisha, Katta M
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5484744/
https://ncbi.nlm.nih.gov/pubmed/28356563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.35
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