Molecular diagnosis of cystic fibrosis
- 1 May 2002
- journal article
- review article
- Published by Taylor & Francis in Expert Review of Molecular Diagnostics
- Vol. 2 (3) , 240-256
- https://doi.org/10.1586/14737159.2.3.240
Abstract
A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype-genotype correlation, methods and method limitations, options, statements, recommendations, useful Websites and treatments.Keywords
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