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Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria

OBJECTIVE: This study’s aim was to identify the genetic causes in a patient with phenylketonuria and hearing loss, liver disease, developmental and mental retardation, hypotonia, and external ophthalmoplegia. METHODS: Whole-exome sequencing and Sanger sequencing analysis were used to determine the g...

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Detalles Bibliográficos
Autores principales:	Li, Lin, Zhao, Jin-Qi, Wang, Chengrong, Yang, Nan, Gong, Li-Fei, Yang, Hai-He, Yin, Chenghong, Kong, Yuan-Yuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421386/ https://www.ncbi.nlm.nih.gov/pubmed/30678510 http://dx.doi.org/10.1177/0300060518823096

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