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TRNT1 deficiency: clinical, biochemical and molecular genetic features

BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS: We investigated four patients from two families with infantile-onset c...

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Detalles Bibliográficos
Autores principales:	Wedatilake, Yehani, Niazi, Rojeen, Fassone, Elisa, Powell, Christopher A., Pearce, Sarah, Plagnol, Vincent, Saldanha, José W., Kleta, Robert, Chong, W Kling, Footitt, Emma, Mills, Philippa B., Taanman, Jan-Willem, Minczuk, Michal, Clayton, Peter T., Rahman, Shamima
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930608/ https://www.ncbi.nlm.nih.gov/pubmed/27370603 http://dx.doi.org/10.1186/s13023-016-0477-0

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