Genetic Mutation – Friday Pop Quiz 8/6/2021

A 20-year-old male presents with jaundice, hepatomegaly, blue lunulae, and the ocular finding as shown. What is the genetic mutation in this condition?

A. Phenylalanine hydroxylase (PAH) gene

B. α-galactosidase A (GLA) gene

C. ATP7B gene

D. Glucocerebrosidase (GBA) gene

E. Cystathionine β-synthase (CBS) gene

To find out the correct answer and read the explanation, click here


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