𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

✍ Scribed by Hanna T. Gazda; Agnieszka Grabowska; Lilia B. Merida-Long; Elzbieta Latawiec; Hal E. Schneider; Jeffrey M. Lipton; Adrianna Vlachos; Eva Atsidaftos; Sarah E. Ball; Karen A. Orfali; Edyta Niewiadomska; Lydie Da Costa; Gil Tchernia; Charlotte Niemeyer; Joerg J. Meerpohl; Joachim Stahl; Gerhard Schratt; Bertil Glader; Karen Backer; Carolyn Wong; David G. Nathan; Alan H. Beggs; Colin A. Sieff


Book ID
117854945
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
572 KB
Volume
79
Category
Article
ISSN
0002-9297

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Ribosomal protein S17 gene (RPS17) is mu
✍ Radek Cmejla; Jana Cmejlova; Helena Handrkova; Jiri Petrak; Dagmar Pospisilova πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 357 KB

## Communicated by Sergio Ottolenghi Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow. In 40% of DBA patients, various physical anomalies

A new database for ribosomal protein gen
✍ Ilenia Boria; Paola Quarello; Federica Avondo; Emanuela Garelli; Anna Aspesi; Ad πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 405 KB

## Communicated by Johan den Dunnen Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with