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
Publicado en:J Med Case Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5310058/
https://ncbi.nlm.nih.gov/pubmed/28196530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1181-3
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