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...

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Detalles Bibliográficos
Publicado en:PLoS Genet
Main Authors: Dillard, Kati J., Ochs, Matthias, Niskanen, Julia E., Arumilli, Meharji, Donner, Jonas, Kyöstilä, Kaisa, Hytönen, Marjo K., Anttila, Marjukka, Lohi, Hannes
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2020
Assuntos:
Research Article
Acceso en liña: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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