Article
Inactivating FSH receptor mutations and gonadal dysfunction.
Molecular and cellular endocrinology - 25 Oct 1998
Tapanainen J S, Vaskivuo T, Aittomäki K, Huhtaniemi I T
Abstract excerpt
A variety of mutations and polymorphisms of genes regulating female and male reproductive functions have been discovered during the last few years. These include several inactivating and activating mutations in LH receptor genes. The first mutation of FSH receptor (FSHR) gene was discovered in six Finnish families. This inactivating Ala189Val transition in the extracellular receptor domain causes primary...
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