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Vitamin C, Collagen Synthesis & Scurvy | USMLE Step 1 Biochemistry
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An 8-year-old girl is evaluated after her third fracture following minor trauma. She has blue-gray sclerae, and her father had several fractures during childhood. Genetic testing identifies a COL1A1 variant that replaces a glycine residue with arginine in the triple-helical region of type I collagen.