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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Blood Cells, Molecules, and Diseases

ISSN

1079-9796

e-ISSN

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Svazek periodika

48

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

IE - Irsko

Počet stran výsledku

10

Strana od-do

209-218

Kód UT WoS článku

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EID výsledku v databázi Scopus

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