Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 4, 2011, Pages 300-301

  Cmejla, Radek ^a   Ludikova, Barbora ^b   Sukova, Martina ^c   Blatny, Jan ^d   Pospisilova, Dagmar ^a  

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

^b PALACKÝ UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d UNIVERSITY HOSPITAL BRNO   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN S 26; RIBOSOME PROTEIN; RIBOSOME PROTEIN L11; RIBOSOME PROTEIN L17; RIBOSOME PROTEIN L5; RIBOSOME PROTEIN S19; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; CZECH REPUBLIC; DISEASE REGISTRY; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; KLIPPEL FEIL SYNDROME; LETTER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RIB MALFORMATION; SMALL FOR DATE INFANT; START CODON; TRANSLATION INITIATION; VERTEBRA MALFORMATION; VESICOURETERAL REFLUX;

ANEMIA, DIAMOND-BLACKFAN; CZECH REPUBLIC; HUMANS; KLIPPEL-FEIL SYNDROME; MUTATION; REGISTRIES; RIBOSOMAL PROTEINS;

EID: 79953703103     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2011.02.003     Document Type: Letter

References (8)

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