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References

These sources were used to develop the Genetics Home Reference gene summary on the TPO gene.

Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest. 1992 Oct;90(4):1200-4. PubMed citation
Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12. PubMed citation
Chardès T, Chapal N, Bresson D, Bès C, Giudicelli V, Lefranc MP, Péraldi-Roux S. The human anti-thyroid peroxidase autoantibody repertoire in Graves' and Hashimoto's autoimmune thyroid diseases. Immunogenetics. 2002 Jun;54(3):141-57. Epub 2002 May 3. Review. PubMed citation
Entrez Gene
Kotani T, Umeki K, Kawano J, Suganuma T, Hishinuma A, Ieiri T, Harada S. Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. Clin Endocrinol (Oxf). 2003 Aug;59(2):198-206. PubMed citation
Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid. 2003 Dec;13(12):1145-51. PubMed citation
OMIM: THYROID PEROXIDASE
Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar;84(3):1061-71. PubMed citation
Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Hum Mutat. 2003 Sep;22(3):259. PubMed citation


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