Articles with "knockout mutation" as a keyword



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A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.

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Published in 2021 at "Human genetics"

DOI: 10.1007/s00439-021-02271-6

Abstract: A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation… read more here.

Keywords: mutation associated; knockout mutation; associated juvenile; paroxysmal dyskinesia ... See more keywords