Genetic Mutation – Friday Pop Quiz 8/6/2021
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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. …
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. … Continue reading "Genetic Mutation – Friday Pop Quiz 8/6/2021"
