Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?

J Clin Immunol. 2021 Jan;41(1):248-250. doi: 10.1007/s10875-020-00887-3. Epub 2020 Oct 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • Angioedemas, Hereditary / diagnosis*
  • Angioedemas, Hereditary / genetics*
  • Complement C1 Inhibitor Protein / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Introns*
  • Male
  • Mutation*
  • Pedigree

Substances

  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human