Pub. Date : 2015 Jul
PMID : 25858481
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. | Glycine | collagen type I alpha 2 chain | Homo sapiens |
| 2 | We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in COL1A2 (p.Gly208Glu and p.Gly235Asp), located on the same allele. | Glycine | collagen type I alpha 2 chain | Homo sapiens |
| 3 | To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele. | Glycine | collagen type I alpha 2 chain | Homo sapiens |
| 4 | We show for the first time that double COL1A2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination. | Glycine | collagen type I alpha 2 chain | Homo sapiens |