Pyruvate kinase deficiency: The genotype-phenotype association

Blood Reviews

Volumn 21, Issue 4, 2007, Pages 217-231

  Zanella, Alberto ^a   Fermo, Elisa ^a   Bianchi, Paola ^a   Chiarelli, Laurent Roberto ^b   Valentini, Giovanna ^b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Chronic haemolytic anaemia; Genotype phenotype association; Mutagenesis; PK LR gene mutations; Pyruvate kinase deficiency

Indexed keywords

ISOENZYME; PYRUVATE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; ENZYME DEFICIENCY; ENZYME STRUCTURE; EPIGENETICS; ERYTHROCYTE TRANSFUSION; ERYTHROPOIESIS; GENE; GENOTYPE PHENOTYPE CORRELATION; HEMOLYSIS; HEMOLYTIC ANEMIA; HUMAN; IRON OVERLOAD; MISSENSE MUTATION; MUTAGENESIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PK LR GENE; PRIORITY JOURNAL; PYRUVATE KINASE DEFICIENCY; RETICULOCYTOSIS; SPLEEN FUNCTION; SPLENECTOMY;

ANEMIA, HEMOLYTIC, CONGENITAL; FEMALE; GENOTYPE; HEMOLYSIS; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PYRUVATE KINASE;

EID: 34250023771     PISSN: 0268960X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.blre.2007.01.001     Document Type: Article

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