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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

BACKGROUND: This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. METHODS: From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Ab...

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Detalles Bibliográficos
Autores principales:	Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939014/ https://www.ncbi.nlm.nih.gov/pubmed/27391121 http://dx.doi.org/10.1186/s13023-016-0474-3

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