Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

Haematologica

Volumn 93, Issue 11, 2008, Pages 1748-1750

  Quarello, Paola ^a   Garelli, Emanuela ^a   Brusco, Alfredo ^a   Carando, Adriana ^a   Pappi, Patrizia ^a   Barberis, Marco ^a   Coletti, Valentina ^b   Campagnoli, Maria Francesca ^a   Dianzani, Irma ^c   Ramenghi, Ugo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF EASTERN PIEDMONT   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; BLACKFAN DIAMOND ANEMIA; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE PROBE; HUMAN; LETTER; RPS19 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ANEMIA, DIAMOND-BLACKFAN; DNA; HUMANS; NUCLEIC ACID DENATURATION; RIBOSOMAL PROTEINS;

EID: 55549145748     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.13423     Document Type: Letter

References (12)

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