Article
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Molecular and cellular endocrinology - 30 Jun 2010
Spitzweg Christine, Morris John C
Abstract excerpt
Molecular cloning of the NIS gene in 1996 allowed examination of the molecular basis of congenital hypothyroidism due to iodide transport defect (ITD) many years after the first case was described by Federman et al. in 1958. Since 1997, when the first NIS mutation causing ITD was identified and c...
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