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Previous Volume 344:926-927 March 22, 2001 Number 12 Next

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In his Croonian Lectures in 1908, Garrod discussed what he called the "inborn factors of disease." In his pioneering studies of alkaptonuria, he recognized that the disorder occurred in families and was inherited according to the rules laid down by Mendel. Alkaptonuria was the first disease in which the recessive inheritance of a genetic disorder was postulated.¹ About 50 years later, Ingram demonstrated that the electrophoretic abnormality in sickle cell disease was the result of the replacement of glutamic acid with valine in the beta chain of hemoglobin.² In the second half of the 20th century, enormous progress was made . . . [Full Text of this Article]

References

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