Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency

Hum Genet. 2007 Dec;122(5):559.
No abstract available

MeSH terms

  • Adrenal Hyperplasia, Congenital / enzymology
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenogenital Syndrome / enzymology*
  • Adrenogenital Syndrome / genetics*
  • Amino Acid Substitution
  • Codon / genetics
  • Female
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Steroid 21-Hydroxylase / genetics*

Substances

  • Codon
  • Steroid 21-Hydroxylase