Questions and Answers
Which enzyme is deficient in Fabry disease?
Alpha-galactosidase
What is the primary site of accumulation in Fabry disease?
Kidney
What are the main causes of premature death in Fabry disease?
Renal failure, cardiac issues, and cerebrovascular disease
Which gender is more likely to be affected by Fabry disease?
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What is the mutated gene in Fabry disease?
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What is the most accurate method for diagnosing female carriers of Fabry disease?
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What is the cause of Fragile X syndrome?
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Which of the following is a common physical feature associated with Fragile X Syndrome?
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What is the specific location of the Fragile X Syndrome gene on the X chromosome?
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What is the term used to describe the expansion of CGG repeats in the FMR1 gene in Fragile X Syndrome?
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What is the normal range of CGG repeats in the 5' UTR region of the FMR1 gene?
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When does the expansion of CGG repeats occur in Fragile X Syndrome?
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How many triplet repeat diseases have been identified?
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What causes triplet expansion in DNA replication?
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