Endocrine disorders associated with mutations in guanine nucleotide binding proteins.

Abstract excerpt

The basis for a number of relatively rare endocrine diseases, which present clinically with features of AHO, have been shown conclusively to result from mutations in the G3 alpha gene which interfere with the expression of functional protein. Individual kindreds display a range of specific mutations in this gene. A further series of disorders result from somatic mutations of the G3 alpha gene which result in...

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