Title : Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Pub. Date : 2021

PMID : 34306033






3 Functional Relationships(s)
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1 Based on population studies, clusters in COL1A1 and COL1A2 genes associated with the presence of glycine substitutions leading to fatal outcome have been distinguished and named as "lethal regions." Glycine collagen type I alpha 2 chain Homo sapiens
2 Finally, we identified six glycine substitutions located in lethal regions of COL1A1 and COL1A2 genes, of which four are novel. Glycine collagen type I alpha 2 chain Homo sapiens
3 Similarly, 109 glycine substitutions have been identified in eight lethal clusters of COL1A2, of which 51 have been associated with a fatal manifestation. Glycine collagen type I alpha 2 chain Homo sapiens