Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences held the second webinar in its Winner’s Webinar series.
The first International UAE Society for Rare Diseases concluded at the end of two days of activities, in which 80 speakers presented 23 lectures and 9 workshops.
Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences held the first webinar in its series on the topic of infectious diseases
The Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences participated in the 13th International Conference of the Islamic Organization for Medical Sciences. 
Sheikh Rashid bin Hamdan bin Rashid Al Maktoum, Supreme Chairman of the Hamdan Bin Rashid Al Maktoum Foundation for Distinguished Academic Performance and Patron of the Sheik ...
Identification of a novel OXCT1 frameshift mutation by whole-exome sequencing and evidence for nonsense-mediated mRNA decay
By: Abdullah Al Mutery, Zamzam Yousef, Mona Mahfood, Abdelaziz Tlili, Jihen Chouchen - University of Sharjah.
The study aimed to identify the causal mutation in an Emirati family with autosomal recessive SCOT deficiency. Whole-exome sequencing was performed on the affected individual. Sanger sequencing confirmed the presence of a novel pathogenic frameshift mutation in the OXCT1 gene. Real-time polymerase chain reaction (PCR) was used to measure the expression levels of the OXCT1 gene in the mRNA of affected, carrier, and unaffected individuals.
