Ontology highlight
ABSTRACT:
SUBMITTER: Svidnicki MCCM
PROVIDER: S-EPMC6003125 | biostudies-literature | 2018 Jan - Mar
REPOSITORIES: biostudies-literature
Svidnicki Maria Carolina Costa Melo MCCM Santos Andrey A Fernandez Jhonathan Angel Araujo JAA Yokoyama Ana Paula Hitomi APH Magalhães Isis Quezado IQ Pinheiro Vitoria Regia Pereira VRP Brandalise Silvia Regina SR Silveira Paulo Augusto Achucarro PAA Costa Fernando Ferreira FF Saad Sara Teresinha Olalla STO
Hematology, transfusion and cell therapy 20171126 1
<h4>Background</h4>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 the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype-phenotype correlations.<h4>Method</h4>Sanger sequencing and in silico analysis were carried ou ...[more]