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.

Alleles Alternative Splicing/genetics Amino Acid Substitution/genetics Base Sequence/genetics Child Collagen/genetics Collagen Type I Collagen Type I, alpha 1 Chain Conserved Sequence/genetics Ehlers-Danlos Syndrome/genetics Female Fibroblasts/pathology Humans Methionine/genetics Molecular Sequence Data Osteogenesis Imperfecta/genetics Peptide Fragments/genetics Phenotype Procollagen/genetics Protein Precursors/genetics RNA, Messenger/genetics Skin/pathology Valine/genetics

Collagen Type I Collagen Type I, alpha 1 Chain Peptide Fragments Procollagen Protein Precursors RNA, Messenger procollagen type I carboxy terminal peptide Collagen Methionine Valine