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

• Autores: Amorim A, Arez AP, Cano J, Chibute S, Do Rosário VE, Fernandes N, Gomes C, Langa J, Machado P, Manco L, Mendes C, Miranda J, Pinto J, Ribeiro L, Salomé G, Sitoe L
• Ano de Publicação: 2012
• Journal: PLoS One
• Link: http://www.ncbi.nlm.nih.gov/pubmed/?term=Pyruvate+Kinase+Deficiency+in+Sub-Saharan+Africa%3A+Identification+of+a+Highly+Frequent+Missense+Mutation+(G829A%3B+Glu277Lys)+and+Association+with+Malaria

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.
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