Multiple choice

A doctor advised a couple for carrier screening for Gaucher disease. Unfortunately, both were found to be carriers of the N370S mutation. If a child inherits the mutation from both the parents, then the most likely phenotype would be

  1. Parkinson's disease

  2. Gaucher disease type 3

  3. Gaucher disease type 2

  4. Gaucher disease type 1

  5. Normal
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

The N370S mutation is associated with Gaucher disease type 1.

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