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J Clin Invest. 1994 Dec;94(6):2326-9.

The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.

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  • 1Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037.


DNA was isolated from four unrelated glucose phosphate isomerase-deficient patients. Seven new mutations in the coding region were found: 247 C-->T, 671 C-->T, 818 G-->A, 833 C-->T, 1039 C-->T, 1459 C-->T, and 1483 G-->A. Three patients were compound heterozygotes, and one patient was a homozygote of 247 C-->T/247 C-->T. Six mutations were found to involve highly conserved amino acids of glucose phosphate isomerase, suggesting that these residues are crucial for the maintenance of biological activity. Two polymorphic sites were also identified, 489 A-->G and 1356 G-->C, which do not produce a change in the amino acid sequence.

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