Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features

We performed genetic analysis and clinical investigations for three patients with suspected monocarboxylate transporter 8 (MCT8) deficiency. On genetic analysis of the MCT8(SLC16A2) gene, novel mutations (c.1333C>A; p.R445S, c.587G>A; p.G196E and c.1063_1064insCTACC; p.R355PfsX64) were identif...

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Detalles Bibliográficos
Autores principales: Ono, Erina, Ariga, Masamichi, Oshima, Sakiko, Hayakawa, Mika, Imai, Masayuki, Ochiai, Yukikatsu, Mochizuki, Hiroshi, Namba, Noriyuki, Ozono, Keiichi, Miyata, Ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860513/
https://www.ncbi.nlm.nih.gov/pubmed/27212794
http://dx.doi.org/10.1297/cpe.25.23

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