Mutations in human gonadotropin and gonadotropin-receptor genes

被引:147
作者
Huhtaniemi, IT
Themmen, APN
机构
[1] Univ London Imperial Coll Sci & Technol, Inst Reprod & Dev Biol, London W12 0NN, England
[2] Erasmus MC, Dept Internal Med, NL-3000 DR Rotterdam, Netherlands
关键词
follicle-stimulating hormone; gonadotropins; gonadotropin receptors; luteinizing hormone; mutation; polymorphism;
D O I
10.1385/ENDO:26:3:207
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
This short review provides an update on the new information that has become available in the recent years about mutations and polymorphisms in the genes for gonadotropins and their receptors. Combining the types and locations of the mutations, their phenotypic effects, and the recently emerged information about the crystal structure of these molecules is providing us with increasingly detailed picture about the structure-function relationships of gonadotropin action.
引用
收藏
页码:207 / 217
页数:11
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