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Research Article Free access | 10.1172/JCI117597

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

W Xu and E Beutler

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

Find articles by Xu, W. in: JCI | PubMed | Google Scholar

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

Find articles by Beutler, E. in: JCI | PubMed | Google Scholar

Published December 1, 1994 - More info

Published in Volume 94, Issue 6 on December 1, 1994
J Clin Invest. 1994;94(6):2326–2329. https://doi.org/10.1172/JCI117597.
© 1994 The American Society for Clinical Investigation
Published December 1, 1994 - Version history
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Abstract

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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