Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

Clin Endocrinol (Oxf). 2012 Jan;76(1):148-50. doi: 10.1111/j.1365-2265.2011.04153.x.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Child, Preschool
  • Congenital Hypothyroidism / epidemiology*
  • Congenital Hypothyroidism / genetics*
  • Exons
  • Female
  • Gene Expression Regulation
  • Genotype
  • Humans
  • Incidence
  • Infant, Newborn
  • Mexico / epidemiology
  • Mutation
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Protein Isoforms

Substances

  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Paired Box Transcription Factors
  • Protein Isoforms