A novel initiation codon mutation in the Ribosomal Protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia

Pediatric Blood and Cancer

Volumn 54, Issue 4, 2010, Pages 629-631

  Song, Min Jung ^a   Yoo, Eun Hyung ^a   Lee, Ki O ^b   Kim, Gee Na ^c   Kim, Hee Jin ^a   Kim, Sun Young ^c   Kim, Sun Hee ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c Chungnam National University College of Medicine   (South Korea)

Author keywords

Diamond Blackfan anemia; Mutation; RPS17; Translation initiation codon

Indexed keywords

COMPLEMENTARY DNA; ERYTHROPOIETIN; GENOMIC DNA; HEMOGLOBIN; METHIONINE; NUCLEOTIDE; RIBOSOME PROTEIN; RIBOSOME PROTEIN S17; STEROID; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

AMPLICON; ANEMIA; ARTICLE; BLACKFAN DIAMOND ANEMIA; BLOOD EXAMINATION; BLOOD TRANSFUSION; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CODON; DISEASE SEVERITY; DYSPNEA; ERYTHROID PRECURSOR CELL; GENE AMPLIFICATION; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE DETECTION; HUMAN; KOREA; LEUKOCYTE; LOW DRUG DOSE; MACROCYTIC ANEMIA; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PALLOR; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RETICULOCYTE COUNT; STEROID THERAPY; TRANSLATION INITIATION;

ANEMIA, DIAMOND-BLACKFAN; CODON, INITIATOR; HUMANS; INFANT; MALE; MUTATION; POLYMERASE CHAIN REACTION; RIBOSOMAL PROTEINS;

EID: 77649098172     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22316     Document Type: Article

References (12)

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