The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F12%3A33140433" target="_blank" >RIV/61989592:15110/12:33140433 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1016/j.bcmd.2012.02.002" target="_blank" >http://dx.doi.org/10.1016/j.bcmd.2012.02.002</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bcmd.2012.02.002" target="_blank" >10.1016/j.bcmd.2012.02.002</a>

Result language
angličtina
Original language name
The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal
Original language description
is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with a paucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we present a detailed description of 39 patients from 34 families enrolled in the Czech National Diamond-Blackfan Anemia Registry. Erythrocyte adenosine deaminase activity and serum erythropoietin levelswere measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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