Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK

Human Mutation

Volumn 30, Issue 3, 2009, Pages 446-453

  Van Wijk, Richard ^a   Huizinga, Eric G ^b   Van Wesel, Annet C W ^a   Van Oirschot, Brigitte A ^a   Hadders, Michael A ^b   Van Solinge, Wouter W ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

Glycolysis; Hemolytic anemia; Molecular modeling; PK; Pyruvate kinase

Indexed keywords

PYRUVATE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME STRUCTURE; ERYTHROCYTE; GENE DELETION; GENE MUTATION; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION;

ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; ENZYME-LINKED IMMUNOSORBENT ASSAY; ERYTHROCYTES; GENE FREQUENCY; HUMANS; HYDROPHOBICITY; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NETHERLANDS; PROTEIN CONFORMATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; PYRUVATE KINASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 61649103978     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20915     Document Type: Article

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