Article
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
The Journal of clinical endocrinology and metabolism - 1 Mar 2002
Doherty Elaine, Pakarinen Pirjo, Tiitinen Aila, Kiilavuori Anna, Huhtaniemi Ilpo, Forrest Susan, Aittomäki Kristiina
Abstract excerpt
Inactivating mutations of the FSH receptor (FSHR) are known to cause ovarian failure with amenorrhea and infertility in women. The first mutation identified in the FSHR gene was a missense mutation (566C-->T, predicting Ala189Val transition) found in several Finnish patients with primary amenorrhea due to ovarian failure. Only five additional, partially or totally inactivating, mutations of the FSHR have been...
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