7wtu
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Cryo-EM structure of a human pre-40S ribosomal subunit - State RRP12-A1 (without CK1)
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Structural highlights
DiseaseRS17_HUMAN Blackfan-Diamond disease. Diamond-Blackfan anemia 4 (DBA4) [MIM:612527: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.[1] [2] FunctionReferences
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This page was last modified 19:23, 19 October 2022.