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Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB.
J Clin Endocrinol Metab. 2009 Jul;94(7):2565-70. doi: 10.1210/jc.2009-0512. Epub 2009 May 5.
J Clin Endocrinol Metab. 2009.
PMID: 19417035
Free PMC article.
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.
Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG.
Hamid R, et al.
J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746. Epub 2009 Oct 16.
J Clin Endocrinol Metab. 2009.
PMID: 19837935
Free PMC article.
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Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
Shariat N, Holladay CD, Cleary RK, Phillips JA 3rd, Patton JG.
Shariat N, et al. Among authors: holladay cd.
Clin Genet. 2008 Dec;74(6):539-45. doi: 10.1111/j.1399-0004.2008.01042.x. Epub 2008 Jun 11.
Clin Genet. 2008.
PMID: 18554279
Free PMC article.
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