Article
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
The Journal of clinical endocrinology and metabolism - 1 Jun 2011
Sriphrapradang Chutintorn, Tenenbaum-Rakover Yardena, Weiss Mia, Barkoff Marla S, Admoni Osnat, Kawthar Dallasheh, Caltabiano Gianluigi, Pardo Leonardo, Dumitrescu Alexandra M, Refetoff Samuel
Abstract excerpt
CONTEXT: TSH receptor (TSHR) and thyroid peroxidase (TPO) gene mutations occur independently. This is the first report of their coexistence in the same individuals. OBJECTIVES: The objective of the study was to evaluate the genotype-phenotype correlations when mutations in both genes are present alone or together in the same individual. PATIENTS AND METHODS: Thirty subjects from an extended Arab kindred underwent...
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