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Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine

14 Mar 2007

Abstract excerpt

CONTEXT: T(3) action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T(3) uptake. Hemizygous mutations have been identified in the X-linked MCT8 gene in boys with severe psychomotor retardation and elevated serum T(3) levels. OBJECTIVE: The objective of this study was to determine the functional consequences of MCT8...

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PMID: 17356046
DOI: 10.1210/jc.2006-2570

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