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

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

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2017 Jul Others Fist_Author_Year_PM

Full Author : ['Shukla, Anju', 'Hebbar, Malavika', 'Srivastava, Anshika', 'Kadavigere, Rajagopal', 'Upadhyai, Priyanka', 'Kanthi, Anil', 'Brandau, Oliver', 'Bielas, Stephanie', 'Girisha, Katta M']
Journal Title : Journal of human genetics
Chapter : Section8
Journal Year : 2017

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 al.....

Keywords : ['multiple mitochondrial dysfunction syndrome', 'homozygous variant', 'associate']