Large ABCA3 and SFTPC Deletions Resulting in Lung Disease

Rationale: Mutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable m...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Henderson, Lindsay B., Melton, Kristin, Wert, Susan, Couriel, Jonathan, Bush, Andrew, Ashworth, Michael, Nogee, Lawrence M.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Thoracic Society 2013
विषय:
Original Research
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3960967/
https://ncbi.nlm.nih.gov/pubmed/24024739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/AnnalsATS.201306-170OC
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