Article
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
American journal of human genetics - 1 Dec 2006
Gazda Hanna T, Grabowska Agnieszka, Merida-Long Lilia B, Latawiec Elzbieta, Schneider Hal E, Lipton Jeffrey M, Vlachos Adrianna, Atsidaftos Eva, Ball Sarah E, Orfali Karen A, Niewiadomska Edyta, Da Costa Lydie, Tchernia Gil, Niemeyer Charlotte, Meerpohl Joerg J, Stahl Joachim, Schratt Gerhard, Glader Bertil, Backer Karen, Wong Carolyn, Nathan David G, Beggs Alan H, Sieff Colin A
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately...
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