Identification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A...

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Autores principales: Crossno, Peter F., Polosukhin, Vasiliy V., Blackwell, Timothy S., Johnson, Joyce E., Markin, Cheryl, Moore, Paul E., Worrell, John A., Stahlman, Mildred T., Phillips, John A., Loyd, James E., Cogan, Joy D., Lawson, William E.
Formato: Artigo
Lenguaje:Inglês
Publicado: American College of Chest Physicians 2010
Materias:
Selected Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2851554/
https://ncbi.nlm.nih.gov/pubmed/20371530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1378/chest.09-0790
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