| Literature DB >> 12050863 |
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.Entities:
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Year: 2002 PMID: 12050863 DOI: 10.1586/14737159.2.3.240
Source DB: PubMed Journal: Expert Rev Mol Diagn ISSN: 1473-7159 Impact factor: 5.225