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2007 | 54 | 4 | 877-881
Article title

Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

Content
Title variants
Languages of publication
EN
Abstracts
EN
We present three novel mutations in the G6PD gene and discuss the changes they cause in the 3-dimensional structure of the enzyme: 573C→G substitution that predicts Phe to Leu at position 191 in the C-terminus of helix αe, 851T→C mutation which results in the substitution 284Val→→Ala in the β+α domain close to the C-terminal part of helix αj, and 1175T→C substitution that predicts Ile to Thr change at position 392.
Publisher

Year
Volume
54
Issue
4
Pages
877-881
Physical description
Dates
published
2007
received
2007-07-19
revised
2007-09-03
accepted
2007-09-04
(unknown)
2007-12-08
Contributors
author
  • Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland
  • Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland
  • Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland
  • Institute of Hematology and Blood Transfusion, Warszawa, Poland
  • Institute of Hematology and Blood Transfusion, Warszawa, Poland
  • Department of Pediatric Oncology and Hematology, P-A Institute of Pediatrics, Jagiellonian University Medical College, Kraków, Poland
  • Department of Pediatric Oncology and Hematology, P-A Institute of Pediatrics, Jagiellonian University Medical College, Kraków, Poland
author
  • Institute of Hematology and Blood Transfusion, Warszawa, Poland
  • Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv54p877kz
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