Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

Human Genetics

Volumn 105, Issue 5, 1999, Pages 496-500

  Matsson, Hans ^a   Klar, Joakim ^a   Draptchinskaia, Natalia ^a   Gustavsson, Peter ^a   Carlsson, Birgit ^a   Bowers, Daniel ^b   De Bont, Eveline ^c   Dahl, Niklas ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; LEUCINE; RIBOSOME PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BLACKFAN DIAMOND ANEMIA; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA DETERMINATION; ERYTHROBLASTOPENIA; ERYTHROID CELL; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SOUTHERN BLOTTING; STOP CODON;

EID: 0032748378     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900165     Document Type: Article

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