Associated Papers
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Carlston CM et al.
American Journal of Medical Genetics. Part A, 2017
Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.
Pereboom TC et al.
Experimental Hematology, 2014
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
Heijnen HF et al.
Plos Genetics, 2014
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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