BCH4024 080725 OC Su25 E4 Q41: A 19-year-old patient present…
BCH4024 080725 OC Su25 E4 Q41: A 19-year-old patient presents with a tall, slender build, disproportionately long arms and fingers, a sunken chest, and extreme nearsightedness. Imaging reveals dilation of the aortic root. Genetic testing identifies a mutation in the FBN1 gene, which encodes fibrillin-1. The following is a segment of the coding strand of the FBN1 gene: Wild-type sequence: 5′–GAA TGC CTC GAG–3′ Mutated sequence: 5′–GAA TGG CTC GAG–3′ Which of the following is the best description of this mutation?
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