Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

Hum Mutat. 1998;11(1):90-1. doi: 10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Female
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Infant
  • Isoleucine / genetics
  • Methionine / genetics
  • Nuclear Proteins*
  • Point Mutation*
  • Sex Determination Processes*
  • Sex-Determining Region Y Protein
  • Transcription Factors*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors
  • Isoleucine
  • Methionine