Article
Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms.
The Journal of clinical endocrinology and metabolism - 1 Feb 1999
Simoni M, Gromoll J, Höppner W, Kamischke A, Krafft T, Stähle D, Nieschlag E
Abstract excerpt
In a search for pathophysiological causes of idiopathic male infertility we investigated the occurrence of mutations of the FSH receptor in 48 men with this disorder. The entire FSH receptor gene was analyzed by single stranded conformation polymorphism analysis (SSCP). A heterozygous point mutation without functional consequences, exchanging Val to Ala in codon 341, was found in one patient. SSCP analysis led to...
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