blue lunulae

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. …