Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

Te Cheng Pan, Rui Zhu Zhang, Margaret A. Pericak-Vance, Rup Tandan, Timothy Fries, Jeffrey M. Stajich, Kristi Viles, Jeffery M. Vance, Mon Li Chu, Marcy C. Speer

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