Abstract:In the last years, molecular diagnosis of human genetic diseases has greatly improved thanks to the knowledge of more than 7,000 disease genes (genomics). However, the study of such diseases revealed the very complex relationships between the phenotype of each disease and the molecular alterations responsible. The analysis of proteins (proteomics) revealed that most proteins are subjected to post-translational changes or to alternative splicing; the study of gene expression identified a series of mechanisms th… Show more
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