The Coexistence of a Novel Inactivating Mutant Thyrotropin Receptor Allele with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation

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 alo...

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Bibliografski detalji
Glavni autori: Sriphrapradang, Chutintorn, Tenenbaum-Rakover, Yardena, Weiss, Mia, Barkoff, Marla S., Admoni, Osnat, Kawthar, Dallasheh, Caltabiano, Gianluigi, Pardo, Leonardo, Dumitrescu, Alexandra M., Refetoff, Samuel
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2011
Teme:
JCEM Online: Brief Reports
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3100752/
https://ncbi.nlm.nih.gov/pubmed/21490078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-0127
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