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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis
Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respi...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238362/ https://www.ncbi.nlm.nih.gov/pubmed/22194755 http://dx.doi.org/10.1155/2011/903910 |