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Autor:
Harry F Heijnen, Richard van Wijk, Tamara C Pereboom, Yvonne J Goos, Cor W Seinen, Brigitte A van Oirschot, Rowie van Dooren, Marc Gastou, Rachel H Giles, Wouter van Solinge, Taco W Kuijpers, Hanna T Gazda, Marc B Bierings, Lydie Da Costa, Alyson W MacInnes
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004371 (2014)
Mutations affecting the ribosome lead to several diseases known as ribosomopathies, with phenotypes that include growth defects, cytopenia, and bone marrow failure. Diamond-Blackfan anemia (DBA), for example, is a pure red cell aplasia linked to the
Externí odkaz:
https://doaj.org/article/25556d82d8954cb899e0a1e170a1ff3c