Concepedia

Publication | Open Access

Novel mutations associated with pyruvate kinase deficiency in Brazil

DOIFull Paper Access

15

Citations

20

References

2017

Year

Maria Carolina Costa Melo Svidnicki, Andrey Santos, Jhonathan A. A. Fernández, Ana Paula Hitomi Yokoyama, Isis Quezado Magalhães, Vitória Régia Pereira Pinheiro, Sílvia Regina Brandalise, Paulo Augusto Achucarro Silveira, Fernando Ferreira Costa, Sara Teresinha Olalla Saad
Hematology Transfusion and Cell Therapy

Abstract

This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The results allowed us to correlate the severity of the clinical phenotype with the identified variants.

References

YearCitations

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