Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

doi:10.1371/journal.pone.0047071

Article

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

PloS one - 1 Jan 2012

Machado Patrícia, Manco Licínio, Gomes Cláudia, Mendes Cristina, Fernandes Natércia, Salomé Graça, Sitoe Luis, Chibute Sérgio, Langa José, Ribeiro Letícia, Miranda Juliana, Cano Jorge, Pinto João, Amorim António, do Rosário Virgílio E, Arez Ana Paula

Abstract excerpt

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 occurrence in some sub-Saharan African countries, as well as finding a prevalent PK variant underlying this deficiency. MATERIALS AND METHODS: Blood samples of...

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Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

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