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Qualitative and Quantitative Variants of Human Phosphoglucose Isomerase

Qualitative and Quantitative Variants of Human Phosphoglucose Isomerase Eight rare variants of human PGI have been discovered during a survey of 3,300 blood samples from various parts of the world. Seven of the 8 variants had altered electrophoretic mobilities. One of these variants was only discovered by the use of a second buffer system. Two of the 8 variants had half the normal level of activity in red cells and white cells. Apart from the partial deficiency of 2 of the variants, the 8 variant phenotypes were not found to differ significantly in any of the following properties: Heat and urea stability, Km (F6P) and Ki (6PG), activity and antibody inhibition. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Heredity Karger

Qualitative and Quantitative Variants of Human Phosphoglucose Isomerase

Human Heredity , Volume 21 (5): 11 – Jan 1, 2008

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Publisher
Karger
Copyright
© 1971 S. Karger AG, Basel
ISSN
0001-5652
eISSN
1423-0062
DOI
10.1159/000152439
Publisher site
See Article on Publisher Site

Abstract

Eight rare variants of human PGI have been discovered during a survey of 3,300 blood samples from various parts of the world. Seven of the 8 variants had altered electrophoretic mobilities. One of these variants was only discovered by the use of a second buffer system. Two of the 8 variants had half the normal level of activity in red cells and white cells. Apart from the partial deficiency of 2 of the variants, the 8 variant phenotypes were not found to differ significantly in any of the following properties: Heat and urea stability, Km (F6P) and Ki (6PG), activity and antibody inhibition.

Journal

Human HeredityKarger

Published: Jan 1, 2008

Keywords: Phosphoglucose isomerase; Rare variants

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