Article
Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction.
Human reproduction update - 1 Jan 2000
Simoni M, Nieschlag E, Gromoll J
Abstract excerpt
The FSH receptor shows three single nucleotide polymorphisms (SNPs), one in the promoter and two in exon 10. In addition, the FSH receptor mRNA undergoes extensive alternative splicing. While no physiological role for the SNP in the promoter and for alternative spliced isoforms has been demonstrated so far, the SNPs in exon 10 result in four discrete allelic variants characterized by the amino acid combinations...
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