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19182486
Source:
http://linkedlifedata.com/resource/pubmed/id/19182486
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51
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0016719
,
umls-concept:C0019425
,
umls-concept:C0026882
,
umls-concept:C0037047
,
umls-concept:C0205198
,
umls-concept:C0205210
,
umls-concept:C0332162
,
umls-concept:C2700116
pubmed:issue
4
pubmed:dateCreated
2009-3-12
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0150760
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Iron-Binding Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/RNA Splice Sites
,
http://linkedlifedata.com/resource/pubmed/chemical/frataxin
pubmed:status
MEDLINE
pubmed:issn
1421-9913
pubmed:author
pubmed-author:BelloneEmiliaE
,
pubmed-author:CiottiPaolaP
,
pubmed-author:Di MariaEmilioE
,
pubmed-author:Di StadioMauroM
,
pubmed-author:GiribaldiGaiaG
,
pubmed-author:LambaLaura DoriaLD
,
pubmed-author:MandichPaolaP
,
pubmed-author:SchenoneAngeloA
,
pubmed-author:VareseAlessandraA
pubmed:issnType
Electronic
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
240-3
pubmed:meshHeading
pubmed-meshheading:19182486-DNA Mutational Analysis
,
pubmed-meshheading:19182486-Diagnosis, Differential
,
pubmed-meshheading:19182486-Female
,
pubmed-meshheading:19182486-Friedreich Ataxia
,
pubmed-meshheading:19182486-Heterozygote
,
pubmed-meshheading:19182486-Humans
,
pubmed-meshheading:19182486-Introns
,
pubmed-meshheading:19182486-Iron-Binding Proteins
,
pubmed-meshheading:19182486-Male
,
pubmed-meshheading:19182486-Point Mutation
,
pubmed-meshheading:19182486-RNA Splice Sites
,
pubmed-meshheading:19182486-Siblings
,
pubmed-meshheading:19182486-Trinucleotide Repeat Expansion
,
pubmed-meshheading:19182486-Young Adult
pubmed:year
2009
pubmed:articleTitle
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.
pubmed:publicationType
Letter
,
Case Reports