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Pendred综合征10例临床分析 被引量:1

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机构地区 泰州市人民医院
出处 《江苏医药》 CAS CSCD 1994年第3期159-159,共1页 Jiangsu Medical Journal
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  • 1第二次残疾人抽样调查办公室.全国第二次残疾人抽样调查主要数据手册[M].北京:华夏出版社,2007.2-38.
  • 2Sheffield VC, Kraiem Z, Beck JC, et al. Pendred syndrome mapsto chromosome 7q21 - 34 and is caused by an intrinsic defect in thy- roid iodine organification [ J ]. Nat Genet, 1996, 12 (4): 424-426.
  • 3Coyle B, Coffey R, Armour JA, et al. Pen- dred syndrome (goiter and sensorineural hear- ing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4 [J]. Nat Genet, 1996, 12 (4): 421 - 423.
  • 4Everett LA, Glaser B, Beck JC, et al. Pen- dred syndrome is caused by mutations in a pu- tative sulphate transporter gene (PDS) [ J ]. Nat Genet, 1997, 17 (4): 411-422.
  • 5Sagong B, Seok JH, Kwon TJ, et al. A no- vel insertion - induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome [J]. Gene, 2012, 508 (1): 135-139.
  • 6Busi M, Castiglione A, Taddei Masieri M, et al. Novel mutations in the SLC26A4 gene [ J ]. Int J Pediatr Otorhinolaryngol, 2012, 76 (9) : 1249- 1254.
  • 7Ben Said M, Dhouib H, BenZina Z, et al. Segregation of a new mutation in SLC26A4 and p. E47X mutation in GJB2 within a consan- guineous Tunisian family affected with Pendred syndrome [ J ]. Int J Pediatr Otorhinolaryn- gol, 2012, 76 (6): 832-836.
  • 8Cirello V, Bazzini C, Vezzoli V, et al. Molecular and functional studies of 4 candi- date loci in Pendred syndrome and nonsyn- dromie heating loss [ J ]. Mol Cell Endocfi- nol, 2012, 351 (2): 342-350.
  • 9Bizhanova A, Kopp P. Genetics and phe- nomics of Pendred syndrome [J]. Mol Cell Endocrinol, 2010, 322 (1-2): 83-90.
  • 10Kopp P, Pesce L, Soils - S JC. Pendred syndrome and iodide transport in the thyroid [J]. Trends Endocfinol Metab, 2008, 19 (7) : 260 - 268.

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