A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

J Hum Genet. 2017 Sep;62(9):867. doi: 10.1038/jhg.2017.65. Epub 2017 Jun 15.

Authors

Anju Shukla¹, Malavika Hebbar¹, Katta M Girisha¹

Affiliation

¹ Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

PMID: 28615676
DOI: 10.1038/jhg.2017.65

No abstract available

Publication types

Comment

MeSH terms

Homozygote
Humans
Iron-Sulfur Proteins / genetics*
Mitochondrial Diseases*
Mitochondrial Proteins / genetics

Substances

ISCA1 protein, human
Iron-Sulfur Proteins
Mitochondrial Proteins

Supplementary concepts

Multiple Mitochondrial Dysfunctions Syndrome