Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s11011-019-00464-7.pdf
Reference33 articles.
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2. Capri Y, Friesema EC, Kersseboom S, Touraine R, Monnier A, Eymard-Pierre E, Des Portes V, De Michele G, Brady AF, Boespflug-Tanguy O, Visser TJ, Vaurs-Barriere C (2013) Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. Hum Mutat 34(7):1018–1025. https://doi.org/10.1002/humu.22331
3. de Menezes-Filho HC, Marui S, Manna TD, Brust ES, Radonsky V, Kuperman H, Dichtchekenian V, Setian N, Damiani D (2011) Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arq Bras Endocrinol Metabol 55(1):60–66. https://doi.org/10.1590/S0004-27302011000100008
4. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74(1):168–175. https://doi.org/10.1086/380999
5. Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ (2003) Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 278(41):40128–40135. https://doi.org/10.1074/jbc.M300909200
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