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

作者: Kati J. Dillard , Matthias Ochs , Julia E. Niskanen , Meharji Arumilli , Jonas Donner

DOI: 10.1371/JOURNAL.PGEN.1008651

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摘要: 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 …

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