Molecular basis of Diamond-Blackfan anemia: New findings from the Italian registry and a review of the literature

Haematologica

Volumn 89, Issue 4, 2004, Pages 480-489

  Campagnoli, Maria Francesca ^a   Garelli, Emanuela ^a   Quarello, Paola ^a   Carando, Adriana ^a   Varotto, Stefania ^b   Nobili, Bruno ^c   Longoni, Daniela ^d   Pecile, Vanna ^e   Zecca, Marco ^f   Dufour, Carlo ^g   Ramenghi, Ugo ^a   Dianzani, Irma ^h  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d Policlinico di Monza   (Italy)

^e INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

Diamond Blackfan anemia; Erythropoiesis; Mutation; RPS19

Indexed keywords

ANDROGEN; CYCLOSPORIN A; ERYTHROPOIETIN; GLUCOCORTICOID; INTERLEUKIN 3; METHYLPREDNISOLONE; METOCLOPRAMIDE; PREDNISONE; PROTEIN S19; RIBOSOME PROTEIN; UNCLASSIFIED DRUG;

ALLELE; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; CHROMOSOME 8P; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CODON; CORRELATION ANALYSIS; ERYTHROID PRECURSOR CELL; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC HETEROGENEITY; GENOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INHERITANCE; ITALY; MENTAL DEFICIENCY; PHENOTYPE; REGISTER; REVIEW; SIDE EFFECT;

ANEMIA, DIAMOND-BLACKFAN; CODON, INITIATOR; EPIDEMIOLOGY, MOLECULAR; HUMANS; ITALY; MUTATION; PHENOTYPE; TRANSLOCATION, GENETIC;

EID: 2942724097     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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