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Given the Following Information, Identify Which Disease Is Being Described

question 17

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


Definitions:

Share Exchange

A transaction where shareholders agree to trade their shares for shares of another company, often used in acquisition deals.

Shareholder Group

A collection of individuals or institutions that own shares in a corporation, giving them partial ownership and possibly the right to vote on corporate matters.

Voting Shares

Shares of stock that give the holder the right to vote on matters of corporate policy and the election of the board of directors.

Business Combination

Transactions or events in which one entity gains control over one or more other businesses, resulting in a consolidated entity.

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