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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4939014/
https://ncbi.nlm.nih.gov/pubmed/27391121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0474-3
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