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Affected gene: COL1A1
Inheritance: Autosomal dominant
Mutation:CanFam3.1 9 g.26193593C>G c.1145G>C

OMIA link: 002126-9615


Breeds: Golden Retriever


Symptoms:

Osteogenesis imperfecta is caused by a mutation in a gene coding for collagen. This causes symptoms ranging from brittle bones to perinatal death due to multiple fractures and severe deformities.


References:

Campbell BG, Wootton JA, MacLeod JN, Minor RR. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. Arch Biochem Biophys. 2000 Dec 1; 384(1):37-46. [PubMed: 11147834]

Osteogenesis Imperfecta – Golden Retriever

C$65.00Price

5 tests et + 55$ch.

Quantity

After your samples are received at the laboratory, please allow 10 to 15 business days for your results to be sent.

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