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A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient
Cystic fibrosis is a life‐shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF‐causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation anal...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290503/ https://www.ncbi.nlm.nih.gov/pubmed/28174639 http://dx.doi.org/10.1002/ccr3.764 |