5 Questions
What is the specific disorder associated with the missense mutation in Pseudouridine Synthase 1 (PUS1)?
Mitochondrial myopathy and sideroblastic anemia (MLASA)
Where is the candidate region for the disorder MLASA localized?
1.2 Mb on 12q24.33
Which department and research center is associated with the study mentioned in the text?
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center
Which medical center is associated with the Institute of Thrombosis and Hemostasis mentioned in the text?
Sheba Medical Center, Tel Hashomer
What type of disorder is MLASA?
Autosomal recessive oxidative phosphorylation disorder
Test your knowledge of mitochondrial myopathy and sideroblastic anemia with this quiz based on the missense mutation in Pseudouridine Synthase 1 (PUS1) reported in the American Journal of Human Genetics in 2004. Learn about the genetic factors contributing to this condition and its impact on human health.
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