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...

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Bibliografiske detaljer
Main Authors:	Henderson, Lindsay B., Melton, Kristin, Wert, Susan, Couriel, Jonathan, Bush, Andrew, Ashworth, Michael, Nogee, Lawrence M.
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Thoracic Society 2013
Fag:	Original Research
Online adgang:	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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Large ABCA3 and SFTPC Deletions Resulting in Lung Disease

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