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6707 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?

AThrough altering the tertiary structure of the protein
BInhibiting DNA replication
CBy introducing a premature stop codon into the protein
DBy creating an alternative splice site in the gene
Biochemistry
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