Molecular Basis of Cystic Fibrosis in Lithuania: IncompleteCFTRMutation Detection by PCR-Based Screening Protocols
Author:
Affiliation:
1. Consiglio Nazionale delle Ricerche, Istituto di Biomembrane e Bioenergetica, Bari and Trani, Italy.
2. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Publisher
Mary Ann Liebert Inc
Subject
Genetics (clinical)
Link
http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.10.169
Reference22 articles.
1. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
2. A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype
3. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
4. Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic Pancreatitis
5. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers
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1. Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience;Diagnostics;2022-11-21
2. Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population;Pathologie Biologie;2015-09
3. CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients;PLoS ONE;2014-02-26
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