Article

A Novel Mutation in the FSH Receptor Inhibiting Signal Transduction and Causing Primary Ovarian Failure

2002-03-01

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 report...

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Literature Corpus work: b5fca7f0-c078-5808-9887-5b63c007eeae
DOI: 10.1210/jc.87.3.1151

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