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The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF, Clark AJ. Metherell LA, et al. Among authors: clark aj. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. doi: 10.1016/j.beem.2006.09.002. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161331 Review.
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL. Cooray SN, et al. Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Endocr Dev. 2008. PMID: 18493136 Review.
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ. Chung TT, et al. Among authors: clark aj. J Clin Endocrinol Metab. 2008 Dec;93(12):4948-54. doi: 10.1210/jc.2008-1744. Epub 2008 Oct 7. J Clin Endocrinol Metab. 2008. PMID: 18840636 Free PMC article.
920 results