Iranian Journal of Pediatrics

Published by: Neoscriber Demo Publisher

A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels

Taha Resid Ozdemir 1 , * and Ali Kanik 2
Authors Information
1 Genetic Diagnostic Center, Izmir Tepecik Training and Research Hospital, Izmir, Turkey
2 Izmir Tepecik Training and Research Hospital, Izmir, Turkey
Article information
  • International Journal of Medical Education: , 25 (2); e369
  • Published Online: April 18, 2015
  • Article Type: Letter
  • Received: June 28, 2014
  • Revised: June 28, 2014
  • Accepted: January 28, 2015
  • DOI: 10.5812/ijp.369

To Cite: Ozdemir T R, Kanik A. A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels, Iran J Pediatr. Online ahead of Print ;25(2):e369. doi: 10.5812/ijp.369.

Copyright: Copyright © 2015, Iranian Journal of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
References
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  • 2. Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994; 331(15): 974-80[DOI][PubMed]
  • 3. Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat. 2003; 22(4): 340[DOI][PubMed]
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