Six children with pyruvate kinase deficiency from one small town: Molecular characterization of the PK-LR gene

Journal of Pediatrics

Volumn 159, Issue 4, 2011, Pages 695-697

  Christensen, Robert D ^a,b   Yaish, Hassan M ^c   Johnson, Charlotte B ^d   Bianchi, Paola ^e   Zanella, Alberto ^e  

^a INTERMOUNTAIN HEALTHCARE   (United States)

^b McKay Dee Hospital Center   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d Pediatric Clinic   (United States)

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

Author keywords

PK; PK LR; Pyruvate kinase; Pyruvate kinase liver red cell

Indexed keywords

GENOMIC DNA; PYRUVATE KINASE; PYRUVATE KINASE LIVER RED CELL; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; CHILD; CHOLECYSTECTOMY; CHOLELITHIASIS; CLINICAL ARTICLE; DNA EXTRACTION; DNA FLANKING REGION; ENZYME DEFICIENCY; ERYTHROCYTE TRANSFUSION; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GILBERT DISEASE; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NEWBORN JAUNDICE; PHOTOTHERAPY; PRIORITY JOURNAL; PYRUVATE KINASE DEFICIENCY; SCHOOL CHILD; SPLENECTOMY; UNITED STATES;

ANEMIA, HEMOLYTIC, CONGENITAL; CHOLELITHIASIS; HEARING LOSS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; HYPERBILIRUBINEMIA; JAUNDICE; MUTATION; PYRUVATE KINASE; RURAL POPULATION; UNITED STATES;

EID: 80052815886     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.05.043     Document Type: Article

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