Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene-Reference-Cited by-同舟云学术

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Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Published:2014-03-13 Issue:1 Volume:14 Page:
ISSN:1471-2466
Container-title:BMC Pulmonary Medicine
language:en
Short-container-title:BMC Pulm Med

Author:

Caldrer Sara,Verzè Genny,Johansson Jan,Sorio Claudio,Angiari Chiara,Buffelli Mario,Assael Baroukh Maurice,Melotti Paola

Publisher

Springer Science and Business Media LLC

Subject

Pulmonary and Respiratory Medicine

Link

http://link.springer.com/content/pdf/10.1186/1471-2466-14-44.pdf

Reference21 articles.

1. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics. 1992, 13 (3): 770-776. 10.1016/0888-7543(92)90152-I.

2. Classification of cystic fibrosis and related disorders. J Cyst Fibros. 2002, 1 (1): 5-8.

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, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C: Recommendations for the classification of diseases as CFTR-related disorders. J Cystic Fibrosis. 2011, 10: S86-S102.

4. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M: Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006, 61 (7): 627-635. 10.1136/thx.2005.043539.

5. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, LeGrys VA, Massie J, Parad RB, Rock MJ, Campbell PW: Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr. 2008, 153 (2): S4-S14. 10.1016/j.jpeds.2008.05.005.

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