CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2010.00591.x/fullpdf
Reference18 articles.
1. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry;Alonso;Ann Hum Gene,2007
2. Frequency of large CFTR gene rearrangements in Italian CF patients;Bombieri;Eur J Hum Genet,2005
3. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice;Castellani;J Cyst Fibro,2008
4. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene;Chevalier-Porst;Hum Mutat,2005
5. Cystic Fibrosis Mutation Database http://www.genet.sickkids.on.ca/cftr/
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2. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants;Human Mutation;2017-06-28
3. Clinical diagnostic Next-Generation sequencing: The case of CFTR carrier screening;Scandinavian Journal of Clinical and Laboratory Investigation;2015-04-15
4. Clinical investigational studies for validation of a next-generation sequencingin vitrodiagnostic device for cystic fibrosis testing;Expert Review of Molecular Diagnostics;2014-05-21
5. Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis;European Journal of Human Genetics;2013-10-16
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