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Questions and Answers
What is the specific disorder associated with the missense mutation in Pseudouridine Synthase 1 (PUS1)?
What is the specific disorder associated with the missense mutation in Pseudouridine Synthase 1 (PUS1)?
- Mitochondrial myopathy and sideroblastic anemia (MLASA) (correct)
- Sickle cell anemia
- Cystic fibrosis
- Hemochromatosis
Where is the candidate region for the disorder MLASA localized?
Where is the candidate region for the disorder MLASA localized?
- 3.0 Mb on 15q13.2
- 0.8 Mb on 5q31.2
- 1.2 Mb on 12q24.33 (correct)
- 2.5 Mb on 8p21.1
Which department and research center is associated with the study mentioned in the text?
Which department and research center is associated with the study mentioned in the text?
- Department of Cardiology, Mayo Clinic
- Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center (correct)
- Department of Psychiatry, Harvard Medical School
- Department of Neurology, Johns Hopkins Medical Center
Which medical center is associated with the Institute of Thrombosis and Hemostasis mentioned in the text?
Which medical center is associated with the Institute of Thrombosis and Hemostasis mentioned in the text?
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What type of disorder is MLASA?
What type of disorder is MLASA?
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