Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneity

American Journal of Hematology

Volumn 85, Issue 2, 2010, Pages 111-116

  Crétien, Aurore ^a   Proust, Alexis ^b   Delaunay, Jean ^a   Rincé, Patricia ^b   Leblanc, Thierry ^c   Ducrocq, Rolande ^d   Simansour, Maud ^d   Marie, Isabelle ^b   Tamary, Hannah ^e   Meerpohl, Jörg ^f   Niemeyer, Charlotte ^f   Gazda, Hanna ^g,h   Sieff, Colin ^h   Ball, Sarah ⁱ   Tchernia, Gil ^j   Mohandas, Narla ^k   Da Costa, Lydie ^a,d,l  

^a INSERM   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c SAINT LOUIS HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e TEL AVIV UNIVERSITY   (Israel)

^f UNIVERSITY OF FREIBURG   (Germany)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^j Centre d'Information et de Dépistage de la Drépanocytose   (France)

^k NEW YORK BLOOD CENTER   (United States)

^l UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOMAL PROTEIN S9; RIBOSOME PROTEIN; STEROID; UNCLASSIFIED DRUG;

AFRICAN AMERICAN; ARTICLE; BLACKFAN DIAMOND ANEMIA; CENTRAL AMERICA; CHILD; CHROMOSOME; CONTROLLED STUDY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; POPULATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANEMIA, DIAMOND-BLACKFAN; EXONS; FEMALE; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RIBOSOMAL PROTEINS;

EID: 75449110355     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21601     Document Type: Article

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