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Article

STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia.

Animal genetics - 1 Jun 2023

Christen Matthias, Ludwig-Peisker Odette, Jagannathan Vidhya, Hetzel Udo, Schönball Ulrike, Leeb Tosso

Abstract excerpt

Primary ciliary dyskinesia (PCD) represents a group of diseases characterized by impaired movement of cilia and subsequent health problems in diverse organ systems, notably the respiratory tract. Almost 50 candidate genes for PCD are known in humans. In this study, we investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge. A transmission electron microscopy...

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PMID: 36786090
DOI: 10.1111/age.13306

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