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

Authors :: Quarello P
Garelli E
Brusco A
Carando A
Pappi P
Barberis M
Coletti V
Campagnoli MF
Dianzani I
Ramenghi U
Source :: Haematologica [Haematologica] 2008 Nov; Vol. 93 (11), pp. 1748-50. Date of Electronic Publication: 2008 Oct 02.
Publication Year :: 2008

Subjects :: DNA genetics
Humans
Nucleic Acid Denaturation
Anemia, Diamond-Blackfan diagnosis
Anemia, Diamond-Blackfan genetics
Ribosomal Proteins deficiency
Ribosomal Proteins genetics

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