Diamond-blackfan anemia: Genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

Haematologica

Volumn 95, Issue 2, 2010, Pages 206-213

  Quarello, Paola ^a   Garelli, Emanuela ^a   Carando, Adriana ^a   Brusco, Alfredo ^a   Calabrese, Roberto ^a   Dufour, Carlo ^b   Longoni, Daniela ^c   Misuraca, Aldo ^d   Vinti, Luciana ^e   Aspesi, Anna ^f   Biondini, Laura ^g   Loreni, Fabrizio ^g   Dianzani, Irma ^f   Ramenghi, Ugo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d Pausillipon Hospital   (Italy)

^e FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^f UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^g UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Anemia; Bone marrow failure; DBA; Red cells; Ribosomal proteins

Indexed keywords

PROTEIN S 16; RIBOSOMAL PROTEIN L11; RIBOSOMAL PROTEIN L35A; RIBOSOMAL PROTEIN L5; RIBOSOMAL PROTEIN S14; RIBOSOMAL PROTEIN S24; RIBOSOME PROTEIN; STEROID; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLACKFAN DIAMOND ANEMIA; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EXON; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HUMAN; HUMAN CELL; INTRON; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; SEQUENCE ANALYSIS;

ANEMIA, DIAMOND-BLACKFAN; CELL LINE; COHORT STUDIES; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HUMANS; ITALY; MUTATION; PHENOTYPE; RIBOSOMAL PROTEINS;

EID: 76549088313     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.011783     Document Type: Article

References (13)

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