COL5A1Collagen, Type V, Alpha1
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While SOVA can be congenital or acquired (8, 9), this patient demonstrated no known aortopathy-associated genetic mutations in a specific limited aortopathy panel (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2; aortopathy panel performed by ARUP Laboratories, Salt Lake City, Utah) (10).
2009) Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations.