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Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation
BACKGROUND: Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. CASE PRESENTATION: We describe three patients carrying the same I73T SPC mutation with ve...
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| izdano v: | Ital J Pediatr |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4772310/ https://ncbi.nlm.nih.gov/pubmed/26925580 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-016-0235-x |
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