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Article

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

3 Sept 2019

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a hereditary defect of motile cilia in humans and several domestic animal species. Typical clinical findings are chronic recurrent infections of the respiratory tract and fertility problems. We analyzed an Alaskan Malamute family, in which two out of six puppies were affected by PCD. The parents were unaffected suggesting autosomal recessive inheritance. Linkage and...

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PMID: 31479451
DOI: 10.1371/journal.pgen.1008378

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