Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

Hum Mutat. 1998:Suppl 1:S304-7. doi: 10.1002/humu.1380110195.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / genetics*
  • Adrenal Hyperplasia, Congenital / pathology
  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Japan
  • Phosphoproteins / genetics*
  • Point Mutation
  • Polymorphism, Genetic
  • Sequence Deletion
  • Steroidogenic Acute Regulatory Protein

Substances

  • Phosphoproteins
  • Steroidogenic Acute Regulatory Protein
  • DNA