TY - GEN AU - Machado, Patrícia AU - Manco, Licínio AU - Gomes, Cláudia AU - Mendes, Cristina AU - Fernandes, Natércia AU - Salomé, Graça AU - Sitoe, Luis AU - Chibute, Sérgio AU - Langa, José AU - Ribeiro, Letícia AU - Miranda, Juliana AU - Ochando, Jordi AU - Pinto, João AU - Amorim, António AU - do Rosário, Virgílio E AU - Arez, Ana Paula PY - 2012 DO - 10.1371/journal.pone.0047071 SN - 1932-6203 UR - http://hdl.handle.net/20.500.12105/6605 AB - BACKGROUND: Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far. This work shows the results of a study undertaken to determine PK deficiency... LA - eng PB - Public Library of Science (PLOS) KW - Adolescent KW - Adult KW - Africa South of the Sahara KW - Aged KW - Anemia KW - Child KW - Child, Preschool KW - Endemic Diseases KW - Gene Frequency KW - Genetic Predisposition to Disease KW - Genetic Testing KW - Geography KW - Humans KW - Infant KW - Malaria KW - Middle Aged KW - Models, Molecular KW - Mutation, Missense KW - Plasmodium KW - Polymorphism, Single-Stranded Conformational KW - Protein Structure, Secondary KW - Pyruvate Kinase KW - Young Adult KW - Genetic Association Studies TI - Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria TY - research article ER -