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Julia had a sibling who died because of a genetic disease as an infant. Before having children, she and her husband Tobias get genetic testing and counseling. They are unlucky. For the GAA gene, Julia has one normal allele and one totally non-functional allele. Tobias has one normal allele, and one GAA allele with a single point mutation allowing GAA function at 15%. Explain to the parents, what causes the disease? •how is the DNA of an offspring with Pompe different? What specific function in the body is impaired? •how does having this DNA lead to death?
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