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Article

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.

Journal of medical genetics - 1 Jul 2004

Symoens S, Nuytinck L, Legius E, Malfait F, Coucke P J, De Paepe A

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Share to Collagen Type I
Share to Collagen Type I, alpha 1 Chain
Share to Ehlers-Danlos Syndrome
Share to Methionine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteogenesis Imperfecta

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Share to Protein Precursors

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Identifiers

PMID: 15235039
DOI: 10.1136/jmg.2003.014589
PMCID: PMC1735834

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