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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Med Case Rep
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2017
विषय:
Case Report
ऑनलाइन पहुंच: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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