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18446315
Source:
http://linkedlifedata.com/resource/pubmed/id/18446315
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0031437
,
umls-concept:C0205082
,
umls-concept:C0205210
,
umls-concept:C0231242
,
umls-concept:C0439792
,
umls-concept:C1420348
,
umls-concept:C2827424
,
umls-concept:C2931355
pubmed:issue
6
pubmed:dateCreated
2008-8-20
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0423161
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/ATL1 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Codon
,
http://linkedlifedata.com/resource/pubmed/chemical/GTP Phosphohydrolases
,
http://linkedlifedata.com/resource/pubmed/chemical/GTP-Binding Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers
,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0340-5354
pubmed:author
pubmed-author:ClaeysK GKG
,
pubmed-author:De JonghePP
,
pubmed-author:HaberlováJJ
,
pubmed-author:SeemanPP
,
pubmed-author:ZámecníkJJ
pubmed:issnType
Print
pubmed:volume
255
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
927-8
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:18446315-Child
,
pubmed-meshheading:18446315-Codon
,
pubmed-meshheading:18446315-DNA Mutational Analysis
,
pubmed-meshheading:18446315-Disease Progression
,
pubmed-meshheading:18446315-Exons
,
pubmed-meshheading:18446315-GTP Phosphohydrolases
,
pubmed-meshheading:18446315-GTP-Binding Proteins
,
pubmed-meshheading:18446315-Genetic Markers
,
pubmed-meshheading:18446315-Genetic Predisposition to Disease
,
pubmed-meshheading:18446315-Genotype
,
pubmed-meshheading:18446315-Humans
,
pubmed-meshheading:18446315-Male
,
pubmed-meshheading:18446315-Membrane Proteins
,
pubmed-meshheading:18446315-Muscle, Skeletal
,
pubmed-meshheading:18446315-Muscle Weakness
,
pubmed-meshheading:18446315-Muscular Atrophy
,
pubmed-meshheading:18446315-Mutation
,
pubmed-meshheading:18446315-Peripheral Nerves
,
pubmed-meshheading:18446315-Peripheral Nervous System Diseases
,
pubmed-meshheading:18446315-Phenotype
,
pubmed-meshheading:18446315-Protein Structure, Tertiary
,
pubmed-meshheading:18446315-Severity of Illness Index
,
pubmed-meshheading:18446315-Spastic Paraplegia, Hereditary
,
pubmed-meshheading:18446315-Sural Nerve
,
pubmed-meshheading:18446315-Wallerian Degeneration
pubmed:year
2008
pubmed:articleTitle
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
pubmed:publicationType
Letter
,
Case Reports