Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: Wide variations in phenotypic expression

Blood

Volumn 94, Issue 12, 1999, Pages 4294-4306

  Willig, Thiébaut Noël ^a   Draptchinskaia, Natalia ^b   Dianzani, Irma ^b   Ball, Sarah ^b   Niemeyer, Charlotte ^b   Ramenghi, Ugo ^b   Orfali, Karen ^b   Gustavsson, Peter ^b   Garelli, Emanuela ^b   Brusco, Alfredo ^b   Tiemann, Christian ^b   Pérignon, Jean Louis ^b   Bouchier, Christiane ^b   Cicchiello, Lawrence ^b   Dahl, Niklas ^b   Mohandas, Narla ^b   Tchernia, Gil ^b  

^a LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; FANCONI ANEMIA; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RIBOSOMAL PROTEINS;

EID: 13044266374     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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