Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease

J Clin Immunol. 2022 Nov;42(8):1614-1617. doi: 10.1007/s10875-022-01331-4. Epub 2022 Jul 28.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Predisposition to Disease
  • Genomics
  • Granulomatous Disease, Chronic* / diagnosis
  • Granulomatous Disease, Chronic* / genetics
  • Heterozygote
  • Humans
  • Mutation / genetics
  • NADPH Oxidases / genetics

Substances

  • NADPH Oxidases
  • NCF2 protein, human