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A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
We report the case of a 19-year-old male patient of Palestinian descent, who presented with a 1-year history of recurrent Pseudomonas aeruginosa respiratory infections, weight loss, chronic diarrhea, and a normal chloride sweat test. A panel for common cystic fibrosis transmembrane conductance regul...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656949/ https://www.ncbi.nlm.nih.gov/pubmed/29118863 http://dx.doi.org/10.4103/atm.ATM_76_17 |