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.
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