APPLICATION OF WHOLE EXOME SEQUENCING TO IDENTIFY DISEASE-CAUSING VARIANTS IN INHERITED HUMAN DISEASES


A scoping review on the impact of austerity on healthcare access in the European Union: rethinking austerity for the most vulnerable

Abstract Background There is consensus that the 2008 financial and economic crisis and related austerity measures adversely impacted access to healthcare.In light of the growing debt caused by the COVID-19 crisis, it is uncertain whether a period of austerity will return.Objective This study aims to provide a structured overview of the impact of au

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Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, Yucca Root PD) carries compound mutations R608X E888X in GAA gene.PBMCs were reprogrammed using non-integrative S

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