R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series

BACKGROUND: Mutational combinations of the cystic fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such mutations. Reporting cystic fibrosis transmembrane conductance...

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Detalles Bibliográficos
Autores principales: Villalona, Seiichi, Glover-López, Guillermo, Ortega-García, Juan Antonio, Moya-Quiles, Rosa, Mondejar-López, Pedro, Martínez-Romero, Maria C., Rigabert-Montiel, Mariano, Pastor-Vivero, María D., Sánchez-Solís, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310058/
https://www.ncbi.nlm.nih.gov/pubmed/28196530
http://dx.doi.org/10.1186/s13256-016-1181-3

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