Genetic diversity in human erythrocyte pyruvate kinase
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Immunology
Link
http://www.nature.com/articles/gene201154.pdf
Reference26 articles.
1. University Medical Center. PKLR Mutation Database. Laboratory for Red Blood Cell Research: Utrecht, 2007.
2. Valentini G, Chiarelli LR, Fortin R, Dolzan M, Galizzi A, Abraham DJ et al. Structure and function of human erythrocyte pyruvate kinase. molecular basis of nonspherocytic hemolytic anemia. J Biol Chem 2002; 277: 23807–23814.
3. van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW . Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. Hum Mutat 2009; 30: 446–453.
4. Min-Oo G, Fortin A, Tam MF, Nantel A, Stevenson MM, Gros P . Pyruvate kinase deficiency in mice protects against malaria. Nat Genet 2003; 35: 357–362.
5. Ayi K, Min-Oo G, Serghides L, Crockett M, Kirby-Allen M, Quirt I et al. Pyruvate kinase deficiency and malaria. N Engl J Med 2008; 358: 1805–1810.
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