Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient.

Lixia ZhuNan XiaoTao ZhangPingping KongBei XuZishui FangLei Jin

Published in: Journal of assisted reproduction and genetics (2020)

The mutation Arg97X could disturb structural stability of the resulting FSH protein consisting of FSHα and mutant FSHβ subunit, which may lead to FSH deficiency.

Keyphrases

case report
replacement therapy
amino acid
protein protein
small molecule
wild type