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A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
J Clin Endocrinol Metab. 2009 Oct;94(10):3897-904. doi: 10.1210/jc.2009-0717. Epub 2009 Sep 1.
J Clin Endocrinol Metab. 2009.
PMID: 19723756
The transcription factors T-bet and GATA-3 control alternative pathways of T-cell differentiation through a shared set of target genes.
Jenner RG, Townsend MJ, Jackson I, Sun K, Bouwman RD, Young RA, Glimcher LH, Lord GM.
Jenner RG, et al.
Proc Natl Acad Sci U S A. 2009 Oct 20;106(42):17876-81. doi: 10.1073/pnas.0909357106. Epub 2009 Oct 5.
Proc Natl Acad Sci U S A. 2009.
PMID: 19805038
Free PMC article.
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