Title : Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.

Pub. Date : 2018

PMID : 29543922






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Also, a missense mutation in COL1A2 changing Gly Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. Glycine collagen type I alpha 2 chain Homo sapiens