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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Case Report
Online adgang: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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