Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.
<h4>Background</h4>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-Sahara...
Main Authors: | Patrícia Machado, Licínio Manco, Cláudia Gomes, Cristina Mendes, Natércia Fernandes, Graça Salomé, Luis Sitoe, Sérgio Chibute, José Langa, Letícia Ribeiro, Juliana Miranda, Jorge Cano, João Pinto, António Amorim, Virgílio E do Rosário, Ana Paula Arez |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
|
Series: | PLoS ONE |
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23082140/?tool=EBI |
Similar Items
-
P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
by: Bushra Haque, et al.
Published: (2024-01-01) -
Association of a Missense ALDH2 Single Nucleotide Polymorphism (Glu504Lys) With Benign Prostate Hyperplasia in a Korean Population
by: Hosik Seok, et al.
Published: (2013-12-01) -
Characterization of apolipoprotein E7 (Glu244→Lys, Glu245→Lys), a mutant apolipoprotein E associated with hyperlipidemia and atherosclerosis
by: Taku Yamamura, et al.
Published: (1999-02-01) -
MMP-8 C-799 T, Lys460Thr, and Lys87Glu variants are not related to risk of cancer
by: Li-Feng Zhang, et al.
Published: (2019-10-01) -
Glu- and Lys-forms of plasminogen differentially affect phosphatidylserine exposure on the platelet surface
by: D. D. Zhernossekov, et al.
Published: (2017-04-01)