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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...

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Detalles Bibliográficos
Autores principales: Chami, Hassan, Arbid, Samer Abou, Badra, Rebecca, Farra, Chantal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
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