Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 3, 2006, Pages 337-341

  Cmejlova, Jana ^a   Cerna, Zdena ^b   Votava, Tomas ^b   Pospisilova, Dagmar ^c   Cmejla, Radek ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c PALACKÝ UNIVERSITY   (Czech Republic)

Author keywords

Diamond Blackfan anemia; Mutation; Nucleolus; Ribosomal protein S19

Indexed keywords

RIBOSOMAL PROTEIN S19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BLACKFAN DIAMOND ANEMIA; CELLULAR DISTRIBUTION; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; INFANT; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION;

ANEMIA, DIAMOND-BLACKFAN; BASE SEQUENCE; CELL NUCLEOLUS; CHILD; FEMALE; HUMANS; INFANT, NEWBORN; MALE; OPEN READING FRAMES; PEDIGREE; SEQUENCE DELETION;

EID: 33646847496     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.01.009     Document Type: Article

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