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A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.
Fang P, Kofoed EM, Little BM, Wang X, Ross RJ, Frank SJ, Hwa V, Rosenfeld RG. Fang P, et al. Among authors: little bm. J Clin Endocrinol Metab. 2006 Apr;91(4):1526-34. doi: 10.1210/jc.2005-2558. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464942
Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG. Fang P, et al. Among authors: little bm. J Clin Endocrinol Metab. 2007 Jun;92(6):2223-31. doi: 10.1210/jc.2006-2624. Epub 2007 Apr 3. J Clin Endocrinol Metab. 2007. PMID: 17405847
Growth hormone insensitivity associated with a STAT5b mutation.
Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, Pratt KL, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Rosenfeld RG. Kofoed EM, et al. N Engl J Med. 2003 Sep 18;349(12):1139-47. doi: 10.1056/NEJMoa022926. N Engl J Med. 2003. PMID: 13679528 Free article. No abstract available.
17 results