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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 levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced.
  • 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 levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced. (en)
Title
  • The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal
  • The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal (en)
skos:prefLabel
  • The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal
  • The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal (en)
skos:notation
  • RIV/61989592:15110/12:33140433!RIV13-MSM-15110___
http://linked.open...avai/riv/aktivita
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  • I
http://linked.open...iv/cisloPeriodika
  • 4
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http://linked.open...aciTvurceVysledku
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  • 129426
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/12:33140433
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  • deaminase activity; Erythrocyte adenosine (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • IE - Irsko
http://linked.open...ontrolniKodProRIV
  • [0396B5FA195E]
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  • Blood Cells, Molecules, and Diseases
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  • 48
http://linked.open...iv/tvurceVysledku
  • Cmejla, R.
  • Ludíková, Barbora
  • Pospíšilová, Dagmar
  • Hak, J.
  • Timr, P.
  • Stary, J.
  • Blatny, J.
  • Cerna, Z.
  • Cmejlova, J.
  • Petrtýlová, K.
  • Vokurka, S.
issn
  • 1079-9796
number of pages
http://bibframe.org/vocab/doi
  • 10.1016/j.bcmd.2012.02.002
http://localhost/t...ganizacniJednotka
  • 15110
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