Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.
Quarello
Paola
P
Garelli
Emanuela
E
Brusco
Alfredo
A
Carando
Adriana
A
Pappi
Patrizia
P
Barberis
Marco
M
Coletti
Valentina
V
Campagnoli
Maria Francesca
MF
Dianzani
Irma
I
Ramenghi
Ugo
U
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