Article
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Human mutation - 1 Sept 2010
Kuipers Remko, van den Bergh Tom, Joosten Henk-Jan, Lekanne dit Deprez Ronald H, Mannens Marcel Mam, Schaap Peter J
Abstract excerpt
Genetic disorders are often caused by nonsynonymous nucleotide changes in one or more genes associated with the disease. Specific amino acid changes, however, can lead to large variability of phenotypic expression. For many genetic disorders this results in an increasing amount of publications describing phenotype-associated mutations in disorder-related genes. Keeping up with this stream of publications is...
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