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A−2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler syndrome kindred, C. J. Williams, A. Ganguly, E. Considine, S. McCarron, D. J. Prockop, C. Walsh-Vockley, V. V. Michels Charlene Williams
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ISSN 2689-0690