Novel mutations and structural implications in R-type pyruvate kinase- deficient patients from southern Italy

Human Mutation

Volumn 11, Issue 2, 1998, Pages 127-134

  Pastore, Lucio ^a   Della Morte, Rossella ^a   Frisso, Giulia ^a   Alfinito, Fiorella ^a   Vitale, Domenico ^a   Calise, Rosa Maria ^a   Ferraro, Filomena ^a   Zagari, Adriana ^a   Rotoli, Bruno ^a   Salvatore, Francesco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Hereditary nonspherocytic hemolytic anemia; Mutation; Phenotype genotype relationship; Pyruvate kinase deficiency; Pyruvate kinase genetics

Indexed keywords

PYRUVATE KINASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 15Q; CHROMOSOME 1Q; CLINICAL ARTICLE; ENZYME DEFICIENCY; ENZYME STABILITY; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE; HUMAN; ITALY; PRIORITY JOURNAL;

ALLOSTERIC REGULATION; AMINO ACID SEQUENCE; ANEMIA, HEMOLYTIC, CONGENITAL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; HUMANS; ITALY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PROTEIN CONFORMATION; PYRUVATE KINASE; RETICULOCYTES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 6844258875     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:2<127::AID-HUMU5>3.0.CO;2-G     Document Type: Article

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