Article
Identification of a Candidate Mutation in the COL1A2 Gene of a Chow Chow With Osteogenesis Imperfecta.
The Journal of heredity - 16 Mar 2018
Quist Erin M, Doan Ryan, Pool Roy R, Porter Brian F, Bannasch Danika L, Dindot Scott V
Abstract excerpt
Osteogenesis imperfecta (OI) is a genetic disease that occurs in humans and animals. Individuals with OI exhibit signs of extreme bone fragility and osteopenia with frequent fractures and perinatal lethality in severe cases. In this study, we report the clinical diagnosis of OI in a dog and the use of targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. A...
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