The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

Blood Cells, Molecules, and Diseases

Volumn 48, Issue 4, 2012, Pages 209-218

  Pospisilova, Dagmar ^a   Cmejlova, Jana ^b   Ludikova, Barbora ^a   Stary, Jan ^c   Cerna, Zdena ^d   Hak, Jiri ^e   Timr, Pavel ^f   Petrtylova, Kvetoslava ^g   Blatny, Jan ^h   Vokurka, Samuel ^d   Cmejla, Radek ^b  

^a PALACKÝ UNIVERSITY   (Czech Republic)

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

^c CHARLES UNIVERSITY   (Czech Republic)

^d CHARLES UNIVERSITY   (Czech Republic)

^e UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

^f Regional Hospital Ceske Budejovice   (Czech Republic)

^g UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^h UNIVERSITY HOSPITAL BRNO   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ERYTHROPOIETIN; GLUCOCORTICOID; LEUCINE; MUTANT PROTEIN; PROTEIN S 26; RIBOSOMAL PROTEIN L11; RIBOSOMAL PROTEIN L5; RIBOSOMAL PROTEIN S19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; BONE MARROW EXAMINATION; BONE MARROW TRANSPLANTATION; CHELATION THERAPY; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CLONOGENIC ASSAY; CRANIOFACIAL MALFORMATION; CZECH REPUBLIC; DISEASE ASSOCIATION; DISEASE REGISTRY; ENZYME ACTIVITY; ERYTHROCYTE; FAMILY ASSESSMENT; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HORMONE BLOOD LEVEL; HUMAN; MALE; MUTATION; PATIENT ASSESSMENT; PHYSICAL DISEASE BY ANATOMICAL STRUCTURE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; SCHOOL CHILD; SHORT STATURE; SKELETON MALFORMATION; SMALL FOR DATE INFANT; THUMB MALFORMATION; TREATMENT RESPONSE;

ADOLESCENT; ADULT; ANEMIA, DIAMOND-BLACKFAN; CHILD; CHILD, PRESCHOOL; CZECH REPUBLIC; EXONS; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; INCIDENCE; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; REGISTRIES; RIBOSOMAL PROTEINS; YOUNG ADULT;

EID: 84858795715     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.02.002     Document Type: Article

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