The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases

Eur J Hum Genet. 2023 Jul;31(7):730-732. doi: 10.1038/s41431-023-01350-8. Epub 2023 Apr 10.
No abstract available

Publication types

  • Comment

MeSH terms

  • Blood Proteins / genetics
  • Complement C3b Inactivator Proteins / genetics
  • Complement Factor H* / genetics
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans

Substances

  • Blood Proteins
  • CFHR1 protein, human
  • CFHR3 protein, human
  • Complement C3b Inactivator Proteins
  • Complement Factor H