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A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl
We report the case of a 12-year-old girl with an allergic bronchopulmonary aspergillosis (ABPA), intermediate sweat chloride tests and one cystic fibrosis (CF)-causing mutation, p.Phe508del. After extensive screening of the CF transmembrane regulator (CFTR) gene, she finally was found to carry a rar...
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| Veröffentlicht in: | BMJ Case Rep |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Group
2012
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4543918/ https://ncbi.nlm.nih.gov/pubmed/23144343 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-006918 |
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