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Given the Following Information, Identify Which Disease Is Being Described

Question 2
Multiple Choice
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Multiple Choice

Given the following information, identify which disease is being described.
Gene - GBA
Protein - acid beta glucosidase
Gene locus - 1q21
Inheritance and incidence - autosomal recessive; 1 in 100,000 among general population; 1 in 900 among Ashkenazi Jews
Clinical features - Type 1: Hepatosplenomegaly, bone lesions, hematological abnormalities,
Survival into adulthood.Type 2: Severe neuronopathic disease, hepatosplenomegaly, death in early childhood

A)Gaucher disease
B)cystic fibrosis
C)sickle cell disease

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