High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

Haematologica

Volumn 97, Issue 12, 2012, Pages 1813-1817

  Quarello, Paola ^a   Garelli, Emanuela ^b   Brusco, Alfredo ^c,d   Carando, Adriana ^b   Mancini, Cecilia ^c   Pappi, Patrizia ^d   Vinti, Luciana ^e   Svahn, Johanna ^f   Dianzani, Irma ^g   Ramenghi, Ugo ^b,g  

^a REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d MOLINETTE HOSPITAL   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f G GASLINI INSTITUTE   (Italy)

^g UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

Diamond blackfan anemia; Multiplex ligationdependent probe amplification; Ribosomal protein gene deletion

Indexed keywords

RIBOSOME PROTEIN;

ARTICLE; BLACKFAN DIAMOND ANEMIA; BLOOD TRANSFUSION; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE PROBE; GENE SEQUENCE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; RPL11 GENE; RPL35A GENE; RPL5 GENE; RPS17 GENE; RPS19 GENE; RPS26 GENE;

ANEMIA, DIAMOND-BLACKFAN; GENE DELETION; GENE DUPLICATION; HUMANS; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PROGNOSIS; REGISTRIES; RIBOSOMAL PROTEINS;

EID: 84870461942     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.062281     Document Type: Article

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