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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Detalhes bibliográficos
Main Authors: Henderson, Lindsay B., Melton, Kristin, Wert, Susan, Couriel, Jonathan, Bush, Andrew, Ashworth, Michael, Nogee, Lawrence M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Thoracic Society 2013
Assuntos:
Original Research
Acesso em linha: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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