Abstract
Glycobiologists have used biochemical and molecular tools to identify the mutated genes in a large number of inherited human diseases that affect glycosylation. Many more such genetic diseases will be identified using powerful genetic mapping tools. Their discoveries will create even more opportunities for scientists interested in glycan function to play a major role in determining the specific functions of the mutated genes. Developing vertebrate and non-vertebrate model systems containing one or more interacting hypomorphic alleles can be a major contribution to understanding the roles of glycans in human physiology and health. The development of sensitive and specific diagnostic indicators of selected disorders will help to insure that defects in the 1 – 2% of the human genes used for glycosylation are not overlooked in the clinic or the laboratory.
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