Article

New Natural Inactivating Mutations of the Follicle-Stimulating Hormone Receptor: Correlations between Receptor Function and Phenotype

1999-11-01

Abstract excerpt

Premature ovarian failure occurs in almost 1% of women under age 40. Molecular alterations of the FSH receptor (FSHR) have recently been described. A first homozygous mutation of the FSHR was identified in Finland. More recently, we described two new mutations of the FSHR in a woman presenting a partial FSH-resistance syndrome (patient 1). We now report new molecular alterations of the FSHR in another woman (patie...

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Literature Corpus work: 4dde8f65-345c-534e-bee7-998789106973
DOI: 10.1210/me.13.11.1844

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