Article
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.
Molecular endocrinology (Baltimore, Md.) - 1 Nov 1999
Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn J R, Milgrom E, Kuttenn F, Misrahi M
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...
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