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. 2004 Jul;41(7):e96. doi: 10.1136/jmg.2003.014589
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
S Symoens
, L Nuytinck
, E Legius
, F Malfait
, P Coucke
, A De Paepe
S Symoens
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L Nuytinck
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E Legius
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F Malfait
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P Coucke
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A De Paepe
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PMCID: PMC1735834 PMID: 15235039