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- W2065996847 abstract "C URRENTLY, the genetic questions of most interest and importance to the clinician are those that concern mechanisms in diseases of primarily genie causation, the pathologic physiology of genetic disease. Three interrelated questions are involved: What is the “basic defect,” t that is, the deviation from the usual, responsible ultimately for the observed manifestation(s)? What is the modus operandi of the basic defect, t that is, what intermediate steps or links are involved in the production of the observed manifestation(s)? What factors account for the variations in severity of clinical expression and, in some instances, for failure of the disease to develop at all despite the presence of the appropriate mutant gene? The reorientation of interest in genetic disease, as in the case of all hereditary traits, is indicated by the apt analogy used by Snyder [3] who, in surveying the status of human genetics at the mid-century, wrote as follows: “In the early days of the study of genetics, the geneticist" @default.
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- W2065996847 date "1957-05-01" @default.
- W2065996847 modified "2023-10-11" @default.
- W2065996847 title "Mechanisms in genetic diseases of man" @default.
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