Article
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
The Journal of clinical investigation - 1 Oct 1998
Beau I, Touraine P, Meduri G, Gougeon A, Desroches A, Matuchansky C, Milgrom E, Kuttenn F, Misrahi M
Abstract excerpt
A single natural loss of function mutation of the follicle stimulating hormone receptor (FSHR) has been described to date. Present in the Finnish population it markedly impairs receptor function, blocking follicle development at the primary stage and presenting as primary amenorrhea with atrophic...
Topics
- Adult
- Amenorrhea
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Base Sequence
- COS Cells
- Cattle
- Cell Membrane
- Europe
- Female
- Finland
- Follicle Stimulating Hormone
- Heterozygote
- Humans
- Infertility, Female
- Kinetics
- Male