Article
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred.
The Journal of clinical endocrinology and metabolism - 1 Feb 1999
de Roux N, Young J, Brailly-Tabard S, Misrahi M, Milgrom E, Schaison G
Abstract excerpt
Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the GnRH receptor gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologous cells, both Gln106Arg and Ser217Arg mutations altered hormone binding, whereas the Arg262Gln...
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