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  1. 1
    Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta.

    Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta. by Elena Makareeva, Guoli Sun, Lynn S Mirigian, Edward L Mertz, Juan C Vera, Nydea A Espinoza, Kathleen Yang, Diana Chen, Teri E Klein, Peter H Byers, Sergey Leikin

    Published 2018-01-01
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  2. 2
    Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

    Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing by David R. Murdock, Dong-chuan Guo, John S. DePaolo, Ulrike Schwarze, Xue-yan Duan, Alana C. Cecchi, Isabella C. Marin, YingYing Tang, Jessica X. Chong, Michael J. Bamshad, Kathleen A. Leppig, Peter H. Byers, Scott M. Damrauer, Dianna M. Milewicz

    Published 2025-03-01
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