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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Main Authors: Henderson, Lindsay B., Melton, Kristin, Wert, Susan, Couriel, Jonathan, Bush, Andrew, Ashworth, Michael, Nogee, Lawrence M.
格式: Artigo
語言:Inglês
出版: American Thoracic Society 2013
主題:
Original Research
在線閱讀: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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