Untangling the phenotypic heterogeneity of diamond Blackfan anemia

Seminars in Hematology

Volumn 48, Issue 2, 2011, Pages 124-135

  Farrar, Jason E ^a   Dahl, Niklas ^b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME PROTEIN;

5Q- SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLACKFAN DIAMOND ANEMIA; CANCER SUSCEPTIBILITY; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PHENOTYPE; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; RPL11 GENE; RPL35A GENE; RPL5 GENE; RPS10 GENE; RPS17 GENE; RPS19 GENE; RPS24 GENE; RPS26 GENE; RPS45 GENE; RPS7 GENE;

ANEMIA, DIAMOND-BLACKFAN; CHROMOSOME ABERRATIONS; HUMANS; MUTATION; PHENOTYPE; RIBOSOMAL PROTEINS;

EID: 79952773882     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2011.02.003     Document Type: Article

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