Article
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Acta biochimica Polonica - 1 Jan 2018
Augusciak-Duma Aleksandra, Witecka Joanna, Sieron Aleksander L, Janeczko Magdalena, Pietrzyk Jacek J, Ochman Karolina, Galicka Anna, Borszewska-Kornacka Maria K, Pilch Jacek, Jakubowska-Pietkiewicz Elzbieta
Abstract excerpt
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in...
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