Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A6985" target="_blank" >RIV/00064203:_____/11:6985 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/11:#0001349 RIV/00023736:_____/11:00009162 RIV/61989592:15110/11:33141719
Result on the web
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21414820" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21414820</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry
Original language description
For a decade, ribosomal proteins (RP) have attracted much attention from hematologists since a mutation in the RPS19 gene was first discovered in a Diamond?Blackfan anemia (DBA) patient. DBA is a congenital red cell aplasia that is usually diagnosed during early infancy, and strikingly, in addition to defects in red cell maturation the disorder is associated with various physical anomalies in about 40% of patients (MIM# 105650). To date, heterozygous mutations in nine RP genes have been conclusively associated with DBA.
Czech name
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Czech description
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Classification
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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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood Cells Molecules and Diseases
ISSN
1079-9796
e-ISSN
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Volume of the periodical
46
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
2
Pages from-to
300-301
UT code for WoS article
000289746800007
EID of the result in the Scopus database
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