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SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

BACKGROUND: The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II...

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Detalles Bibliográficos
Autores principales:	Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777997/ https://www.ncbi.nlm.nih.gov/pubmed/24069319 http://dx.doi.org/10.1371/journal.pone.0074544

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