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  • Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

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Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

https://doi.org/10.1136/jmg.2003.014589

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    Footnotes

    • This work was supported by grant GOA number 12051203 (Ghent University).

    • Conflict of interest: none declared.