Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance

Hum Mutat. 1996;8(4):396. doi: 10.1002/(SICI)1098-1004(1996)8:4<396::AID-HUMU24>3.0.CO;2-X.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alanine
  • Exons
  • Female
  • Glycine
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Receptors, Thyroid Hormone / genetics*
  • Thyroid Hormone Resistance Syndrome / genetics*

Substances

  • Receptors, Thyroid Hormone
  • Alanine
  • Glycine