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A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II

Autor: Jacinto, Joana G. P., Häfliger, Irene M., McEvoy, Fintan J., Drögemüller, Cord, Agerholm, Jørgen S.

Publikováno v: Jacinto, J G P, Häfliger, I M, McEvoy, F J, Drögemüller, C & Agerholm, J S 2021, ' A de novo mutation in col1a1 in a holstein calf with osteogenesis imperfecta type II ', Animals, vol. 11, no. 2, 561, pp. 1-9 . https://doi.org/10.3390/ani11020561
Animals : an Open Access Journal from MDPI
Animals, Vol 11, Iss 561, p 561 (2021)
Animals
Volume 11
Issue 2
Jacinto, Joana G. P.; Häfliger, Irene M.; McEvoy, Fintan J.; Drögemüller, Cord; Agerholm, Jørgen S. (2021). A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II. Animals, 11(2) MDPI 10.3390/ani11020561

Osteogenesis imperfecta (OI) type II is a genetic connective tissue disorder characterized by bone fragility, severe skeletal deformities and shortened limbs. OI usually causes perinatal death of affected individuals. OI type II diagnosis in humans i

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https://curis.ku.dk/ws/files/257970162/animals_11_00561_v2.pdf