NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

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 w...

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Veröffentlicht in:	PLoS genetics 2019-09, Vol.15 (9), p.e1008378-e1008378
Hauptverfasser:	Anderegg, Linda, Im Hof Gut, Michelle, Hetzel, Udo, Howerth, Elizabeth W, Leuthard, Fabienne, Kyöstilä, Kaisa, Lohi, Hannes, Pettitt, Louise, Mellersh, Cathryn, Minor, Katie M, Mickelson, James R, Batcher, Kevin, Bannasch, Danika, Jagannathan, Vidhya, Leeb, Tosso
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Alaskan malamutes (Dogs) Animals Autosomal recessive inheritance Biology and Life Sciences Breeding Cilia Cilia - genetics Ciliary Motility Disorders - genetics Ciliary Motility Disorders - physiopathology Diagnosis Dogs Dogs - genetics Dyskinesia Endoscopy Female Flagella Frameshift Mutation - genetics Gene mapping Genetic aspects Genetic Linkage - genetics Genetic screening Genetic Testing Genetics Genomes Genotype Genotypes Heredity Humans Hydrocephalus Immunohistochemistry Male Medical examination Medicine and Health Sciences Movement disorders Mutation - genetics Neural stimulation NM23 Nucleoside Diphosphate Kinases - genetics NM23 Nucleoside Diphosphate Kinases - metabolism Pathology Phenotype Phenotypes Primary ciliary dyskinesia Respiratory tract diseases Sperm Supervision Varieties Veterinary medicine Whole Genome Sequencing
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