Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Pathology international"
DOI: 10.1111/pin.13168
Abstract: Diamond-Blackfan anemia (DBA) is a genetic disorder caused by mutations in genes encoding ribosomal proteins and characterized by erythroid aplasia and various physical abnormalities. Although accumulating evidence suggests that defective ribosome biogenesis leads to p53-mediated… read more here.
Keywords: physical abnormalities; haploinsufficiency; blackfan anemia; diamond blackfan ... See more keywords