Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients

著录项

• 来源
  《The journal of sexual medicine》 |2017年第9期|共10页
• 作者

  Engeli Roger T.; Tsachaki Maria; Hassan Heba A.; Sager Christoph P.; Essawi Mona L.; Gad Yehia Z.; Kamel Alaa K.; Mazen Inas; Odermatt Alex;

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• 作者单位

  Univ Basel Dept Pharmaceut Sci Div Mol &

  Syst Toxicol Klingelbergstr 50 CH-4056 Basel;

  Univ Basel Dept Pharmaceut Sci Div Mol &

  Syst Toxicol Klingelbergstr 50 CH-4056 Basel;

  Natl Res Ctr Dept Med Mol Genet Div Human Genet &

  Genome Res Ctr Excellence Human Genet Cairo;

  Natl Res Ctr Dept Med Mol Genet Div Human Genet &

  Genome Res Ctr Excellence Human Genet Cairo;

  Natl Res Ctr Dept Med Mol Genet Div Human Genet &

  Genome Res Ctr Excellence Human Genet Cairo;

  Natl Res Ctr Dept Human Cytogenet Div Human Genet &

  Genome Res Ctr Excellence Human Genet Cairo;

  Natl Res Ctr Ctr Excellence Human Genet Div Human Genet &

  Genome Res Dept Clin Genet Cairo;

  Univ Basel Dept Pharmaceut Sci Div Mol &

  Syst Toxicol Klingelbergstr 50 CH-4056 Basel;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 性卫生;
• 关键词

  XY Disorder of Sexual Development; HSD17B3; Hydroxysteroid Dehydrogenase; Mutation; Androgen; Testosterone;

  机译：XY性发展疾病;HSD17B3;羟类脱氢酶;突变;雄激素;睾酮;