R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series-Reference-Cited by-同舟云学术

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

Published:2017-02-15 Issue:1 Volume:11 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

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

Funder

National Center on Minority Health and Health Disparities

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13256-016-1181-3.pdf

Reference14 articles.

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3. Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011;10:86–102.

4. Tsai M, Li M, Hwang T. Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel. J Gen Physiol. 2010;135:399–414.

5. Rogan MP, Stoltz DA, Hornick DB. Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment. Chest. 2011;139:1480–90.

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1. Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator–Related Disorders;Pancreas;2019-07-02