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10874325
Source:
http://linkedlifedata.com/resource/pubmed/id/10874325
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39
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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:C0017337
,
umls-concept:C0205314
,
umls-concept:C0599155
,
umls-concept:C0679622
pubmed:issue
1
pubmed:dateCreated
2000-8-25
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Arginine
,
http://linkedlifedata.com/resource/pubmed/chemical/Leucine
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1098-1004
pubmed:author
pubmed-author:Al-MahdawiSS
,
pubmed-author:ChamberlainSS
,
pubmed-author:PonsRR
pubmed:issnType
Electronic
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
95
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10874325-Amino Acid Substitution
,
pubmed-meshheading:10874325-Arginine
,
pubmed-meshheading:10874325-Friedreich Ataxia
,
pubmed-meshheading:10874325-Genes, Recessive
,
pubmed-meshheading:10874325-Homozygote
,
pubmed-meshheading:10874325-Humans
,
pubmed-meshheading:10874325-Leucine
,
pubmed-meshheading:10874325-Mutation, Missense
,
pubmed-meshheading:10874325-Trinucleotide Repeat Expansion
pubmed:year
2000
pubmed:articleTitle
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
pubmed:affiliation
Imperial College School of Science, Technology and Medicine, London, UK.
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't