Red blood cell PK deficiency: An update of PK-LR gene mutation database

Blood Cells, Molecules, and Diseases

Volumn 57, Issue , 2016, Pages 100-109

  Canu, Giulia ^a   De Bonis, Maria ^a   Minucci, Angelo ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Hemolysis; PK LR gene; Pyruvate kinase

Indexed keywords

PYRUVATE KINASE; ISOENZYME;

AMINO ACID SUBSTITUTION; ENZYME DEFICIENCY; ERYTHROCYTE; EXON; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; DEFICIENCY; DISORDERS OF CARBOXYLIC ACID METABOLISM; ENZYMOLOGY; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; HOMOZYGOTE; LIVER; METABOLISM; MUSCLE; MUTATION; PATHOLOGY; RECESSIVE GENE;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; ANIMALS; DATABASES, GENETIC; ERYTHROCYTES; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISOENZYMES; LIVER; MUSCLES; MUTATION; POLYMORPHISM, GENETIC; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS;

EID: 84959219073     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2015.12.009     Document Type: Review

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