Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

Neonatal interstitial lung diseases due to abnormal surfactant biogenesis are rare in humans and have never been reported as a spontaneous disorder in animals. We describe here a novel lung disorder in Airedale Terrier (AT) dogs with clinical symptoms and pathology similar to the most severe neonata...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS Genet
Prif Awduron: Dillard, Kati J., Ochs, Matthias, Niskanen, Julia E., Arumilli, Meharji, Donner, Jonas, Kyöstilä, Kaisa, Hytönen, Marjo K., Anttila, Marjukka, Lohi, Hannes
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2020
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7082050/
https://ncbi.nlm.nih.gov/pubmed/32150563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008651
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