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Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs.

Animal genetics - 1 Aug 2023

Fitzwilliams Therese, Wolff-Sneedorff Julie L, Fredholm Merete, Karlskov-Mortensen Peter, Guldbrandtsen Bernt, Bruun Camilla S

Abstract excerpt

Cystinuria is a genetic disease that can lead to cystine urolith formation. The English bulldog is the dog breed most frequently affected. In this breed, three missense mutations have been suggested to be associated with cystinuria: c.568A>G and c.2086A>G in SLC3A1 and c.649G>A in SLC7A9. In this study, the occurrence of these three mutations in the Danish population of English bulldogs was investigated....

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PMID: 36971195
DOI: 10.1111/age.13321

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