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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Sriphrapradang, Chutintorn, Tenenbaum-Rakover, Yardena, Weiss, Mia, Barkoff, Marla S., Admoni, Osnat, Kawthar, Dallasheh, Caltabiano, Gianluigi, Pardo, Leonardo, Dumitrescu, Alexandra M., Refetoff, Samuel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Endocrine Society 2011
Pynciau:
JCEM Online: Brief Reports
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg