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Osteogenesis Imperfecta COL1A

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Osteogenesis Imperfecta COL1A
Gene Name 2
COL1A1
Mutation
c.1276G>C
Mutation 2
c.3991_3994del
Test Type
Genetic Disease/Disorder
Details
Also known as Brittle Bone Disease. As with humans, causes abnormally brittle bones that fracture easily.
Details 2
Causes abnormally brittle bones that fracture easily.
Published
Lazar, T., deHaan, J.J., Peck, J.N., Campbell, B.G., Ginn, P.E., Phillips, L., Suero, A., Chase, J. : Osteogenesis imperfecta in three dogs from a single litter Veterinary & Comparative Orthopaedics & Traumatology 13:23-27, 2000.
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