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Review Question - QID 107978

Type of DNA Mutations Missense Exchange of one base for another results in changed amino acid QID: 107978 (M1.BC.17.4695)
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QID 107978 (Type "107978" in App Search)
A 12-year-old African American boy presents to the emergency department with severe abdominal and joint pain. He has had these episodes twice before and has family members who have suffered similar symptoms. He is also found by CBC to have a hematocrit of 28%. After acute management he is referred for genetic counseling due to clinical suspicion and is found to have the mutation shown in Figure A. Which of the following types of mutations does this represent?
  • A
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  • A