Article
Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing.
The Journal of clinical endocrinology and metabolism - 1 Feb 2005
Sedlmeyer Ines L, Pearce Celeste Leigh, Trueman Julie A, Butler Johannah L, Bersaglieri Todd, Read Andrew P, Clayton Peter E, Kolonel Laurence N, Henderson Brian E, Hirschhorn Joel N, Palmert Mark R
Abstract excerpt
Because GnRH and its receptor (GnRHR) are pivotal regulators of the reproductive endocrine axis and mutations in GNRHR lead to hypogonadotropic hypogonadism, we investigated whether genetic variation in GNRHR or GNRH1 affects pubertal timing in the general population. To screen for missense mutations in these genes that might affect pubertal timing, we resequenced the coding regions of these genes in 48 probands...
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