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甲状腺过氧化物酶基因突变与先天性甲状腺功能低下的关系探讨 被引量:1

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出处 《山东医药》 CAS 北大核心 2003年第14期24-25,共2页 Shandong Medical Journal
基金 济南市科技局资助课题 (济科合字 2 0 0 0第 3 0 3 4号 )
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参考文献5

  • 1Gruters A.Congenital hypothyroidism.Pediatric Annals,1992,21:18~28.
  • 2Endo Y,Onogi S,Umeki K,et al.Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C.Genomics,1995,25:760~761.
  • 3Santos CL,Bikker H,Rego KG,et al.A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.Clinical Endocrinology,1999,51:165~172.
  • 4Kotani T,Umeki K,Yamamoto I,et al.A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.Journal of Endocrinology,1999,160:267~273.
  • 5Bakker B,Bikker H,Vulsma T,et al.Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects.Journal of Clinical Endocrinology and Metabolism,2000,85:3708~3712.

同被引文献11

  • 1Rastogi, La Franchi. Congenital hypothyroidism [ J ]. Orphanet Jour- nal of Rare Diseases, 2010,5: 17.
  • 2Moreno JC, Bikker H, Kempers M J, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroid- ism [ J ]. N Engl J Med,2002, 347 (2) : 95 - 102.
  • 3SM Park, VKK Chatterjee. Genetics of congenital hypothyroidism [J]. J Med Genet, 2005, 42:379 -389.
  • 4Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene [ J ]. Clinical Endocrinology, 2012,76:568 - 576.
  • 5Kimura S, Hong Y, Kotani T, et al. Structure of the human thyroid peroxidase gene: comparison and relationship to the human myeloper- oxidase gene[J]. Biochemistry, 1989,28:4481 -4489.
  • 6Abramowicz M J, Targovnik HM, Varela V, et al. Identfication of amutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter[J]. J Clin Invest, 1992, 90 (4) :1200 - 1204.
  • 7Esposito C, Miccadei S, Saiardi A, Civitareale D. PAX 8 activates the enhancer of the human thymperoxidase gene [ J ]. Biochem J, 1998,331 (Pt 1):37 -40.
  • 8HGMD:http ://www. hgmd. cf. ac. uk/ac/index, php.
  • 9Yoshida A, Taniguchi S, Hisatome I, et al. Pendrin is an iodide - specific apical porter responsible for iodide efflux from thyroid cells [ J ]. J Clin Endocrinol Metab,2002,87 (7) : 3356 - 61.
  • 10J Ruf, P Carayon. Archives of Biochemistry and Biophysics, 2006, 445 : 269 - 277.

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