Electronic encyclopaedia of human hereditary disorders of amino acid metabolism (aminoacidurias) has been created. The disease inheritance, gene location, phenotype, gene structure, gene mutations, biochemistry, and gene therapy of aminoacidurias are described in most detail. The database (DB) is integrated with international DBs available in Internet. The electronic encyclopaedia may serve as an educational system connecting medicine with modern molecular genetics.
Russian Journal of Genetics – Springer Journals
Published: Oct 8, 2004
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