Mutations in MCT8 in Patients with Allan-Herndon-Dudley-Syndrome Affecting Its Cellular Distribution

Monocarboxylate transporter 8 (MCT8) is a thyroid hormone (TH)-specific transporter. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. To study the functional consequences of different MCT8 m...

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Publicat a:Mol Endocrinol
Autors principals: Kersseboom, Simone, Kremers, Gert-Jan, Friesema, Edith C. H., Visser, W. Edward, Klootwijk, Wim, Peeters, Robin P., Visser, Theo J.
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2013
Matèries:
Original Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5416761/
https://ncbi.nlm.nih.gov/pubmed/23550058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/me.2012-1356
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