Article
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Monaghan K G, Highsmith W E, Amos J, Pratt V M, Roa B, Friez M, Pike-Buchanan L L, Buyse I M, Redman J B, Strom C M, Young A L, Sun W
Abstract excerpt
PURPOSE: We expect that the mutation panel currently recommended for preconception/prenatal CF carrier screening will be modified as new information is learned regarding the phenotype associated with specific mutations and allele frequencies in various populations. One such example is the I148T mutation, originally described as a severe CF mutation. After implementation of CF population-based carrier screening,...
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