Molecular diagnosis of cystic fibrosis |
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Authors: | Shrimpton Antony E |
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Affiliation: | SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA. shrimpta@upstate.edu |
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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. |
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