OMIA 000754-9615 : Osteogenesis imperfecta, generic in Canis lupus familiaris
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Golden Retriever||Osteogenesis imperfecta||COL1A1||missense||c.1276G>C||p.G208A||2000||11147834|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2000||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.|
|1997||Campbell, B.G., Wootton, J.A.M., Krook, L., Demarco, J.A., Minor, R.R. :|
|Clinical signs and diagnosis of osteogenesis imperfecta in three dogs Journal of the American Veterinary Medical Association 211:183 ff., 1997. Pubmed reference: 9227748.|
|1991||Konig, F. :|
|Case Report - Osteogenesis Imperfecta in a German Shepherd Puppy Kleintierpraxis 36:583, 1991.|
|1960||Lettow, E., Dammrich, K. :|
|[Contribution to the clinical picture and pathology of Osteogenesis imperfecta in the young dog.] Beitrag zur Klinik und Pathologie der Osteogenesis imperfecta bei Junghunden. Zentralblatt fur Veterinarmedizin 7:936-966, 1960.|
|1956||Calkins, E., Kalm, D., Diner, W.C. :|
|Idiopathic familial osteoporosis in dogs: 'Osteogenesis imperfecta' Annals of the New York Academy of Sciences 64:410-423, 1956.|
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