Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Mañú-Pereira, María Del Mar

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. [electronic resource] - American journal of hematology Dec 2015 - E217-9 p. digital

Publication Type: Letter; Research Support, Non-U.S. Gov't

1096-8652

10.1002/ajh.24178 doi


Anemia, Hemolytic, Congenital--genetics
Anemia, Hemolytic, Congenital Nonspherocytic--genetics
Germ-Line Mutation
Humans
Male
Paternal Exposure
Pyruvate Kinase--deficiency
Pyruvate Metabolism, Inborn Errors--genetics