Asked in ETEA MDCAT 2010 2010Moderate

Which one of the following diseases is due to point mutation?

Correct answer: C. Phenylketonuria

  • A. Down syndrome
  • B. Klinefelter syndrome
  • C. Phenylketonuria
  • D. Turner syndrome

Explanation

Phenylketonuria (PKU) is a genetic disorder that is caused by a point mutation, specifically a mutation in a single gene known as the PAH gene.

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