By C. Thomas Caskey
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Additional info for Annual Review of Medicine Volume 55 2004
Distribution analysis of nonsynonymous polymorphisms within the G-proteincoupled receptor gene family. Genomics 81:245–48 36. Karges B, Karges W, Mine M, et al. 2003. Mutation A1a171 Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. J. Clin. Endocrinol. Metab. 88(4):1873–79 37. Jordan N, Williams N, Gregory JW, et al. 2003. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a caucasian population.
2002. LH receptor defects. Semin. Reprod. Med. 20(3):199–204 Wysolmerski JJ, Cormier S, Philbrick WM, et al. 2001. Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. J. Clin. Endocrinol. Metab. 86(4):1487–88 Schulz A, Sangkuh K, Lennert T, et al. 2002. Aminoglycoside pretreatment partially restores the function of truncated V2 vasopressin receptors found in patients with nephrogenic diabetes insipidus.
Metab. 88(4):1873–79 37. Jordan N, Williams N, Gregory JW, et al. 2003. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a caucasian population. J. Clin. Endocrinol. Metab. 88(3):1002–5 38. Corvilain B, Van Sande J, Dumont JE, et al. 2001. Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin. Endocrinol. 55:143–58 39. Carasquillo MM, McCallion AS, Puffenberger EG, et al. 2002. sgm LaTeX2e(2002/01/18) G PROTEIN AND RECEPTOR DISORDERS 40.
Annual Review of Medicine Volume 55 2004 by C. Thomas Caskey