Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

American Journal of Hematology

Volumn 89, Issue 10, 2014, Pages 985-991

  Farrar, Jason E ^a   Quarello, Paola ^b   Fisher, Ross ^c   O'Brien, Kelly A ^d   Aspesi, Anna ^e   Parrella, Sara ^e   Henson, Adrianna L ^f   Seidel, Nancy E ^d   Atsidaftos, Eva ^g,h,i   Prakash, Supraja ^a   Bari, Shahla ^a   Garelli, Emanuela ^j   Arceci, Robert J ^k   Dianzani, Irma ^e   Ramenghi, Ugo ^j   Vlachos, Adrianna ^g,h,i   Lipton, Jeffrey M ^g,h,i   Bodine, David M ^d   Ellis, Steven R ^f  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c LOMA LINDA UNIVERSITY MEDICAL CENTER   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^f UNIVERSITY OF LOUISVILLE   (United States)

^g DONALD AND BARBARA ZUCKER SCHOOL OF MEDICINE AT HOFSTRA NORTHWELL   (United States)

^h FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

ⁱ Northwell Health   (United States)

^j UNIVERSITY OF TURIN   (Italy)

^k UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; HEMOGLOBIN; PNEUMOCOCCUS VACCINE; RIBOSOME PROTEIN; RIBOSOMAL PROTEIN L34; RIBOSOME RNA; RNA PRECURSOR;

ANTIBIOTIC THERAPY; ARTICLE; ASSAY; BILATERAL PROXIMAL RADIOULNAR SYNOSTOSIS; BLACKFAN DIAMOND ANEMIA; CASE REPORT; CHROMOSOME 2; CHROMOSOME BREAKAGE ASSAY; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; DEPLETION; ECHOCARDIOGRAPHY; EOSINOPHILIA; ERYTHROCYTE TRANSFUSION; ERYTHROID PRECURSOR CELL; FEMALE; FEVER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HAPLOINSUFFICIENCY; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYPOPLASIA; INFANT; KARYOTYPE; LYMPHOCYTOSIS; MACROCYTIC ANEMIA; MYELOID HYPOPLASIA; NEUTROPENIA; NORTHERN BLOTTING; PNEUMOCOCCAL INFECTION; RNA GENE; RNA PROCESSING; RPL11 GENE; RPL31 GENE; RPS19 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THENAR HYPOPLASIA; THROMBOCYTE COUNT; TRIPHALANGEAL THUMB; ULTRASOUND; VACCINATION; GENETICS; K562 CELL LINE; LARGE RIBOSOMAL SUBUNIT; METABOLISM; SMALL RIBOSOMAL SUBUNIT;

ANEMIA, DIAMOND-BLACKFAN; FEMALE; HUMANS; INFANT; K562 CELLS; RIBOSOMAL PROTEINS; RIBOSOME SUBUNITS, LARGE, EUKARYOTIC; RIBOSOME SUBUNITS, SMALL, EUKARYOTIC; RNA PRECURSORS; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, RIBOSOMAL;

EID: 84908019275     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23807     Document Type: Article

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