Linked Life Data

15446459

Source:http://linkedlifedata.com/resource/pubmed/id/15446459

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2004-9-27
pubmed:abstractText
The autosomal recessive Nijmegen breakage syndrome (NBS) is a DNA repair disorder due to a mutation in the NBS1 gene on 8q21. Hyperradiosensitivity and high risk for lymphoreticular malignancy are important reasons for early diagnosis and prevention by avoidance of ionisation. The frequency of NBS heterozygotes of the mutation 657de15, which is predominant in the Slavic population was estimated to be in the range of 1:90-1:314 in different parts of Poland, and 1:128-154 among Czech newborns, born 20 years ago.
pubmed:language
cze
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0008-7335
pubmed:author
pubmed:issnType
Print
pubmed:volume
143
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
538-41; discussion 542
pubmed:dateRevised
2007-5-10
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[Nijmegen breakage syndrome in Slovakia].
pubmed:affiliation
Oddelení klinické genetiky UBLG 2. LF UK a FNM, Praha. eva.seemanova@lfmotol.cuni.cz
pubmed:publicationType
Journal Article, English Abstract