DURING the past decade, the molecular biologist has shown us how mutation in the informational code of the gene is eventually translated into an alteration, either in the primary structure of a protein catalyst or in the rate of synthesis of the catalyst. In either case, the function of the catalyst is impaired and the phenotype of the organism is changed.Another, albeit less remarkable, advance in knowledge during the past decade both enhances our view of molecular biology and directly benefits the care of our patients. In 1954 two papers appeared in this journal describing a new cause of convulsions in infancy.
展开▼
