| 1 | SLC5A5
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| Genetics of congenital hypothyroidism.
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| Park SM, Chatterjee VK.
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| J Med Genet 42(5):379-89. 2005
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| 2 | SLC5A5
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| Expression of sodium iodide symporter in benign and malignant human thyroid tissues.
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| Lin JD, Hsueh C, Chao TC, Weng HF.
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| Endocr Pathol 12(1):15-21. 2001
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| 3 | SLC5A5
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| Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
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| Pohlenz J, et al.
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| Biochimie 81(5):469-76. Review. 1999
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| 4 | SLC5A5
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| Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
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| Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S.
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| J Clin Invest 101(5):1028-35. 1998
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| 5 | SLC5A5
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| Recurrent T354P mutation of the Na+/I-symporter in patients with iodide transport defect.
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| Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, Kodama S, Amino N.
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| J Clin Endocrinol Metab 83 : 2940-2943. 1998
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| 6 | SLC5A5
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| Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
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| Kosugi S, et al.
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| J Clin Endocrinol Metab 83 : 3373-3376. 1998
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| 7 | SLC5A5
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| High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.
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| Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, Kameya T, Isozaki O, Jhiang SM.
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| J Clin Endocrinol Metab 83 : 4123-4129. 1998
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| 8 | SLC5A5
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| Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.
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| Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N.
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| Nat Genet 16(2):124-5. 1997
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| 9 | SLC5A5
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| Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter.
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| Smanik PA, Ryu KY, Theil KS, Mazzaferri EL, Jhiang SM.
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| Endocrinology 138(8):3555-8. 1997
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| 10 | SLC5A5
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| Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
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| Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S.
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| Biochem Biophys Res Commun 240(2):488-91. 1997
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| 11 | SLC5A5
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| A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
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| Matsuda A, Kosugi S.
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| J Clin Endocrinol Metab 82(12):3966-71. 1997
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| 12 | SLC5A5
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| Cloning of the human sodium iodide symporter.
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| Smanik P, et al.
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| Biochem Biophys Res Commun 226 : 339-345. 1996
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