RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

Author:

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.

Publisher

Wiley

Subject

Hematology

Reference31 articles.

1. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature;Baldwin;American Journal of Medical Genetics,1995

2. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature;Campagnoli;Haematologica,2004

3. A splicing-dependent regulatory mechanism that detects translation signals;Carter;EMBO Journal,1996

4. Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance;Cheng;Molecular and Cellular Biology,1994

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