Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.
Paola
P
Quarello
Emanuela
E
Garelli
Alfredo
A
Brusco
Adriana
A
Carando
Patrizia
P
Pappi
Marco
M
Barberis
Valentina
V
Coletti
Maria Francesca
MF
Campagnoli
Irma
I
Dianzani
Ugo
U
Ramenghi
D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000235:genetics; D006801:Humans; D009691:Nucleic Acid Denaturation; D012269:Ribosomal Proteins / Q000172:deficiency* / Q000235:genetics*
D012269:Ribosomal Proteins; C040343:ribosomal protein S19; D004247:DNA