Title : COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Pub. Date : 2020 Mar

PMID : 31794058






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Eight COL1A1/COL1A2 variants were novel and five recurrent with a predominance of glycine substitutions affecting residues within the procollagen N-proteinase cleavage site of alpha1(I) and alpha2(I) procollagens. Glycine collagen type I alpha 2 chain Homo sapiens