The ribosomal basis of diamond-blackfan anemia: Mutation and database update

Human Mutation

Volumn 31, Issue 12, 2010, Pages 1269-1279

  Boria, Ilenia ^a   Garelli, Emanuela ^b   Gazda, Hanna T ^c,d   Aspesi, Anna ^a   Quarello, Paola ^b   Pavesi, Elisa ^a   Ferrante, Daniela ^a   Meerpohl, Joerg J ^e   Kartal, Mutlu ^e   Da Costa, Lydie ^f,g,h   Proust, Alexis ⁱ   Leblanc, Thierry ^f   Simansour, Maud ^f   Dahl, Niklas ^j   Fröjmark, Anne Sophie ^j   Pospisilova, Dagmar ^k   Cmejla, Radek ^l   Beggs, Alan H ^c,d   Sheen, Mee R ^c   Landowski, Michael ^c   M Buros, Christopher ^c   M Clinton, Catherine ^c   J Dobson, Lori ^c   Vlachos, Adrianna ^m,n   Atsidaftos, Eva ^m,n   Lipton, Jeffrey M ^m,n   Ellis, Steven R ^o   Ramenghi, Ugo ^b   Dianzani, Irma ^a   more..

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF FREIBURG   (Germany)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g Universite Paris Sud   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ BICÊTRE HOSPITAL   (France)

^j UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^k PALACKÝ UNIVERSITY   (Czech Republic)

^l INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^m FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH   (United States)

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

^o UNIVERSITY OF LOUISVILLE   (United States)

more..

Author keywords

Diamond Blackfan anemia; Erythropoiesis; Ribosomal protein; Ribosome biogenesis

Indexed keywords

DINUCLEOTIDE; PROTEIN S 26; RIBOSOME PROTEIN; RIBOSOME PROTEIN L11; RIBOSOME PROTEIN L35A; RIBOSOME PROTEIN L5; RIBOSOME PROTEIN S10; RIBOSOME PROTEIN S17; RIBOSOME PROTEIN S19; RIBOSOME PROTEIN S24; RIBOSOME PROTEIN S7; UNCLASSIFIED DRUG;

ARTICLE; BLACKFAN DIAMOND ANEMIA; CPG ISLAND; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MUTAGENESIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RIBOSOME;

ANEMIA, DIAMOND-BLACKFAN; BASE SEQUENCE; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; RIBOSOMAL PROTEINS; RIBOSOMES;

EID: 78649549671     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21383     Document Type: Article

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