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Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
C M C Maranduba, E C H Friesema, F Kok, M H A Kester, J Jansen, A L SertiĆ©, M R Passos-Bueno, T J Visser
J Med Genet 2006; 43(5):457-460
ICID: 556134
IC™ Value: 2.00
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