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Biochemistry
An 8-year-old boy has failure to thrive, alopecia totalis, localized scleroderma, a small face and jaw, a "beak" nose, wrinkled skin, and stiff joints. He is determined to have a single-point mutation in a nuclear protein, which is a silent mutation in terms of the primary structure of the protein. How could such a mutation lead to a disease?
Through altering the tertiary structure of the protein
Inhibiting DNA replication
By introducing a premature stop codon into the protein
By creating an alternative splice site in the gene
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