1 | CHNG6, THRA
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| Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.
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| le Maire A, Bouhours-Nouet N, Soamalala J, Mirebeau-Prunier D, Paloni M, Guee L, Heron D, Mignot C, Illouz F, Joubert F, Briet C, Rodien P, Bourguet W, Flamant F, Guyot R.
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| Thyroid. Apr 23. doi: 10.1089/thy.2019.0602. Online ahead of print 2020
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2 | THRA
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| Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
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| Krieger TG, Moran CM, Frangini A, Visser WE, Schoenmakers E, Muntoni F, Clark CA, Gadian D, Chong WK, Kuczynski A, Dattani M, Lyons G, Efthymiadou A, Varga-Khadem F, Simons BD, Chatterjee K, Livesey FJ.
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| Proc Natl Acad Sci U S A. Nov 5;116(45):22754-22763. doi: 10.1073/pnas.1908762116. Epub 2019 Oct 18 2019
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3 | THRA
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| Thyroid Hormone Receptor Alpha Mutations Lead to Epithelial Defects in the Adult Intestine in a Mouse Model of Resistance to Thyroid Hormone.
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| Bao L, Roediger J, Park S, Fu L, Shi B, Cheng SY, Shi YB.
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| Thyroid Mar;29(3):439-448. doi: 10.1089/thy.2018.0340. Epub 2019 Jan 25 2019
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4 | THRA, THRB
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| Inhibition of thyroid hormone receptor locally in the retina is a therapeutic strategy for retinal degeneration.
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| Ma H, Yang F, Butler MR, Belcher J, Redmond TM, Placzek AT, Scanlan TS, Ding XQ.
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| FASEB J. Aug;31(8):3425-3438. doi: 10.1096/fj.201601166RR. Epub 2017 Apr 20 2017
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5 | CHNG6, THRA
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| Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 2015
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| Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Różdżyńska-Świątkowska A, Hoischen A, Chrzanowska KH.
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| J Med Genet. May;52(5):312-6. doi: 10.1136/jmedgenet-2014-102936. Epub 2015 Feb 10. 2015
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6 | CHNG6, THRA
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| A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.
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| Espiard S, Savagner F, Flamant F, Vlaeminck-Guillem V, Guyot R, Munier M, d'Herbomez M, Bourguet W, Pinto G, Rose C, Rodien P, Wémeau JL.
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| J Clin Endocrinol Metab. Aug;100(8):2841-8. doi: 10.1210/jc.2015-1120. Epub 2015 Jun 2 2015
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7 | CHNG6, GHTR, THRA, THRB
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| Thyroid hormone receptors and resistance to thyroid hormone disorders.
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| Ortiga-Carvalho TM, Sidhaye AR, Wondisford FE.
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| Nat Rev Endocrinol. Oct;10(10):582-91. doi: 10.1038/nrendo.2014.143. Epub 2014 Aug 19 2014
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8 | G6PC, PCK1, THRA, THRB
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| FoxO1 deacetylation regulates thyroid hormone-induced transcription of key hepatic gluconeogenic genes.
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| Singh BK, Sinha RA, Zhou J, Xie SY, You SH, Gauthier K, Yen PM.
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| J Biol Chem 18;288(42):30365-72. doi: 10.1074/jbc.M113.504845. Epub 2013 Aug 30 2013
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9 | CHNG6, THRA
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| A mutation in the thyroid hormone receptor alpha gene
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| Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.
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| N Engl J Med. Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14. Erratum in: N Engl J Med. 2012 Oct 11;367(15):1474 2012
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10 | THRA
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| Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease.
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| Goumidi L, Flamant F, Lendon C, Galimberti D, Pasquier F, Scarpini E, Hannequin D, Campion D, Amouyel P, Lambert JC, Meirhaeghe A.
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| Neurobiol Aging 32(4):624-30. Epub 2009 May 7.
2011
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11 | CYP3A4, NR1I2, NR2F1, NR2F2, THRA, THRB
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| Regulation of CYP3A4 by pregnane X receptor: The role of nuclear receptors competing for response element binding.
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| Istrate MA, Nussler AK, Eichelbaum M, Burk O.
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| Biochem Biophys Res Commun 393(4):688-93. Epub 2010 Feb 18.PMID: 20171174 2010
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12 | SLC16A2, THRA
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| Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
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| Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van Ijcken WF, van der Spek PJ, Visser TJ.
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| Hum Mol Genet 19(21):4189-200. Epub 2010 Aug 12.
2010
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13 | THRA
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| The thyroid hormone receptor alpha1 protein is expressed in embryonic postmitotic neurons and persists in most adult neurons.
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| Wallis K, Dudazy S, van Hogerlinden M, Nordström K, Mittag J, Vennström B.
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| Mol Endocrinol 24(10):1904-16. Epub 2010 Aug 25.
2010
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14 | THRA
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| Unliganded thyroid hormone receptor alpha1 impairs adult hippocampal neurogenesis.
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| Kapoor R, van Hogerlinden M, Wallis K, Ghosh H, Nordstrom K, Vennstrom B, Vaidya VA.
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| FASEB J 24(12):4793-805. Epub 2010 Aug 13.
2010
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15 | THRA
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| Liganded thyroid hormone receptor-alpha enhances proliferation of pancreatic beta-cells.
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| Furuya F, Shimura H, Yamashita S, Endo T, Kobayashi T.
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| J Biol Chem 285(32):24477-86. Epub 2010 Jun 7.
2010
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16 | THRA, THRB
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| Isoform-specific transcriptional activity of overlapping target genes that respond to thyroid hormone receptors alpha1 and beta1.
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| Chan IH, Privalsky ML.
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| Mol Endocrinol 23(11):1758-75. Epub 2009 Jul 23.PMID: 19628582 2009
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17 | THRA
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| Thyroid hormone receptor alpha plays an essential role in the normalisation of adult-onset hypothyroidism-related hypoexpression of synaptic plasticity target genes in striatum.
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| Vallortigara J, Chassande O, Higueret P, Enderlin V.
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| J Neuroendocrinol 21(1):49-56.
2009
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18 | THRA
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| Thyroid hormone receptor alpha1 follows a cooperative CRM1/calreticulin-mediated nuclear export pathway.
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| Grespin ME, Bonamy GM, Roggero VR, Cameron NG, Adam LE, Atchison AP, Fratto VM, Allison LA.
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| J Biol Chem 283(37):25576-88. Epub 2008 Jul 19.
2008
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19 | THRA, THRB
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| Lack of mutations in the thyroid hormone receptor (TR) alpha and beta genes but frequent hypermethylation of the TRbeta gene in differentiated thyroid tumors.
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| Joseph B, Ji M, Liu D, Hou P, Xing M.
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| J Clin Endocrinol Metab 92(12):4766-70. Epub 2007 Oct 2.
2007
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20 | NR3C1, RARB, THRA
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| Spatial and temporal expression of glucocorticoid, retinoid, and thyroid hormone receptors is not altered in lungs of congenital diaphragmatic hernia.
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| Rajatapiti P, Keijzer R, Blommaart PE, Lamers WH, DE Krijger RR, Visser TJ, Tibboel D, Rottier R.
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| Pediatr Res 60(6):693-8. Epub 2006 Oct 25. 2006
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21 | THRA, THRB
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| Expression of thyroid hormone receptor/erbA genes is altered in human breast cancer.
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| Silva JM, Dominguez G, Gonzalez-Sancho JM, Garcia JM, Silva J, Garcia-Andrade C, Navarro A, Munoz A, Bonilla F.
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| Oncogene 21(27):4307-16. 2002
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22 | THRA
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| An unliganded thyroid hormone receptor causes severe neurological dysfunction.
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| Hashimoto K, Curty FH, Borges PP, Lee CE, Abel ED, Elmquist JK, Cohen RN, Wondisford FE.
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| Proc Natl Acad Sci U S A 98(7):3998-4003. 2001
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23 | BTR, THRA, TSG17B
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| Mutation analysis of the THRA1 gene in breast cancer : deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line.
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| Futreal PA, Cochran C, Marks JR, Iglehart JD, Zimmerman W, Barrett JC, Wiseman RW.
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| Cancer Res 54 : 1791-1794. 1994
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24 | BRCA1, THRA, D17S183
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| THRA1 and D17S183 flank an interval of <4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21.
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| Bowcock AM, et al.
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| Am J Hum Genet 52 : 718-722. 1993
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25 | THRA
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| Dinucleotide repeat polymorphism in the human thyroid hormone receptor alpha gene (THRA1) on chromosome 17.
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| Sakurai A, et al.
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| Hum Mol Genet 1 : 553. 1992
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26 | D6S223, THRA
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| Dinucleotide repeat polymorphism at the D6S223 locus.
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| Bowcock A, et al.
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| Hum Mol Genet 1 : 66. 1992
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27 | THRA
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| Dinucleotide repeat polymorphism in the THRA1 gene.
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| Futreal PA, et al.
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| Hum Mol Genet 1 : 66. 1992
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28 | THRA
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| Nuclear thyroid hormone receptors.
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| Lazar MA, et al.
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| J Clin Invest 86 : 1777-1782. 1990
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29 | NR1D1, THRA
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| Two erbA homologs encoding proteins with different T3 binding capacities are transcribed from opposite DNA strands of the same genetic locus.
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| Miyajima N, et al.
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| Cell 57 : 31-39. 1989
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30 | THRA
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| Alternative splicing generates messages encoding rat c-erb-A proteins that do not bind thyroid hormone.
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| Mitsuhashi TG, et al.
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| Proc Natl Acad Sci U S A 85 : 5804-5808. 1988
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31 | THRA
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| RFLP for the human erb-A1 gene.
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| Rider SH, et al.
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| Nucleic Acids Res 15 : 863. 1987
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32 | THRA
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| Identification of a novel thyroid hormone receptor expressed in the mammalian central nervous system.
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| Thompson CC, et al.
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| Science 237 : 1610-1614. 1987
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33 | THRA
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| High resolution chromosome analysis of constitutional and acquired t(15;17) maps c-erbA to subband 17q11.2.
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| Mitelman F, et al.
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| Cancer Genet Cytogenet 22 : 95-98. 1986
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34 | THRA, THRB
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| The c-erb-A gene encodes a thyroid hormone receptor.
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| Weinberger C, et al.
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| Nature 324 : 641-646. 1986
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35 | THRA, THRB
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| The c-erb-A protein is a high-affinity receptor for thyroid hormone.
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| Sap J, et al.
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| Nature 324 : 635-640. 1986
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36 | THRA
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| Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17.
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| Sheer D, et al.
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| Ann Hum Genet 49 : 167-171. 1985
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37 | THRA, EGFR
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| Chromosomal localisation of the human homologues to the oncogenes erb A and B.
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| Spurr NK, et al.
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| EMBO J 3 : 159-163. 1984
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38 | THRA
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| A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia.
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| Dayton AI, et al.
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| Proc Natl Acad Sci U S A 81 : 4495-4499. 1984
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