A Novel Mutation in the Sodium/Iodide Symporter Gene in the Largest Family with Iodide Transport Defect1
نویسندگان
چکیده
منابع مشابه
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
Iodide transport defect is a disorder characterized by an inability of the thyroid to maintain an iodide concentration difference between the plasma and the thyroid. The recent cloning of the sodium/iodide symporter (NIS) gene enabled us to characterize the NIS gene in this disorder. We identified a homozygous missense mutation of A-->C at nucleotide +1060 in NIS complementary DNA in a male pat...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.9.5971