Article
Mutations and polymorphisms of the FSH receptor (FSHR) gene: clinical implications in female fecundity and molecular biology of FSHR protein and gene.
Obstetrical & gynecological survey - 1 Dec 2008
Lussiana Cristina, Guani Benedetta, Mari Caterina, Restagno Gabriella, Massobrio Marco, Revelli Alberto
Abstract excerpt
UNLABELLED: The portion of chromosome 2, including the gene codifying the receptor of FSH (FSHR gene), can display point mutations that cause variations in the amino acid sequence of the receptor protein (FSHR protein). Some of these structural changes affect the receptor functional properties that may be enhanced (activating mutations) or impaired (inactivating mutations). Activating mutations confer to FSHR a...
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