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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ‐line de novo mutation
Author(s) -
MañúPereira María Del Mar,
GonzalezRoca Eva,
van Solinge Wouter W.,
LlaudetPlanas Esther,
Sevilla Julián,
Montllor Laura,
MensaVilaro Anna,
Ploos van Amstel Hans Kristian,
van Wijk Richard,
VivesCorrons JoanLluis
Publication year - 2015
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.24178
Subject(s) - pyruvate kinase deficiency , hemolytic anemia , pyruvate kinase , medicine , heterozygote advantage , pediatrics , genetics , biology , gene , glycolysis , genotype , metabolism
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