Article
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
British journal of haematology - 1 Oct 2004
Gazda Hanna T, Zhong Rong, Long Lilia, Niewiadomska Edyta, Lipton Jeffrey M, Ploszynska Anna, Zaucha Jan M, Vlachos Adrianna, Atsidaftos Evangelia, Viskochil David H, Niemeyer Charlotte M, Meerpohl Joerg J, Rokicka-Milewska Roma, Pospisilova Dagmar, Wiktor-Jedrzejczak W, Nathan David G, Beggs Alan H, Sieff Colin A
Abstract excerpt
The genetic basis of Diamond-Blackfan anaemia (DBA), a congenital erythroid hypoplasia that shows marked clinical heterogeneity, remains obscure. However, the fact that nearly one-quarter of patients harbour a variety of mutations in RPS19, a ribosomal protein gene, provides an opportunity to examine whether haplo-insufficiency of RPS19 protein can be demonstrated in certain cases. To that end, we identified 19...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.