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9452053
Source:
http://linkedlifedata.com/resource/pubmed/id/9452053
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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:C0017337
,
umls-concept:C0026882
,
umls-concept:C0332281
,
umls-concept:C0442874
,
umls-concept:C1515568
,
umls-concept:C2700453
pubmed:dateCreated
1999-6-30
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9215429
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/DNA
,
http://linkedlifedata.com/resource/pubmed/chemical/Myelin Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/PMP22 protein, human
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed-author:BlesaDD
,
pubmed-author:BoseCC
,
pubmed-author:García-PlanellsJJ
,
pubmed-author:PalatGG
,
pubmed-author:ParicioNN
,
pubmed-author:PrietoFF
,
pubmed-author:SevillaTT
,
pubmed-author:VílchezJ JJJ
pubmed:issnType
Print
pubmed:volume
Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S95-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:9452053-Amino Acid Substitution
,
pubmed-meshheading:9452053-Child
,
pubmed-meshheading:9452053-Child, Preschool
,
pubmed-meshheading:9452053-DNA
,
pubmed-meshheading:9452053-DNA Mutational Analysis
,
pubmed-meshheading:9452053-Family Health
,
pubmed-meshheading:9452053-Female
,
pubmed-meshheading:9452053-Hereditary Sensory and Motor Neuropathy
,
pubmed-meshheading:9452053-Humans
,
pubmed-meshheading:9452053-Male
,
pubmed-meshheading:9452053-Mutation
,
pubmed-meshheading:9452053-Myelin Proteins
,
pubmed-meshheading:9452053-Pedigree
,
pubmed-meshheading:9452053-Point Mutation
,
pubmed-meshheading:9452053-Polymorphism, Single-Stranded Conformational
pubmed:year
1998
pubmed:articleTitle
Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
pubmed:affiliation
Genetics Unit, Hospital Universitari La Fe, Valencia, Spain.
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't