COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Brittle Bone Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder 		0.020 GeneticVariation disease BEFREE We previously used adeno-associated virus (AAV) vectors to target and inactivate mutant COL1A1 genes in MSCs from individuals with the brittle bone disorder, osteogenesis imperfecta (OI). 17955022 2008
CUI: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder 		0.020 GeneticVariation disease BEFREE Here, we have used adeno-associated virus vectors to disrupt dominant-negative mutant COL1A1 collagen genes in MSCs from individuals with the brittle bone disorder osteogenesis imperfecta, demonstrating successful gene targeting in adult human stem cells. 14976317 2004