Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.
作者信息
Medeiros-Neto G A, Bloise W, Ulhoa-Cintra A B
出版信息
J Clin Endocrinol Metab. 1972 Sep;35(3):370-7. doi: 10.1210/jcem-35-3-370.
PMID:5051359
Abstract
摘要
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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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Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment.
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