Novel mutations associated with pyruvate kinase deficiency in Brazil

Novel mutations associated with pyruvate kinase deficiency in Brazil

Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on t...

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Bibliographic Details
Main Authors: Maria Carolina Costa Melo Svidnicki, Andrey Santos, Jhonathan Angel Araujo Fernandez, Ana Paula Hitomi Yokoyama, Isis Quezado Magalhães, Vitoria Regia Pereira Pinheiro, Silvia Regina Brandalise, Paulo Augusto Achucarro Silveira, Fernando Ferreira Costa, Sara Teresinha Olalla Saad
Format: Article
Language:English
Published: Elsevier 2018-01-01
Series:Hematology, Transfusion and Cell Therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S1516848417301305

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http://www.sciencedirect.com/science/article/pii/S1516848417301305

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