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16437560
Source:
http://linkedlifedata.com/resource/pubmed/id/16437560
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015127
,
umls-concept:C0026882
,
umls-concept:C0442874
,
umls-concept:C0542341
,
umls-concept:C0728938
,
umls-concept:C1314792
,
umls-concept:C1418677
,
umls-concept:C1517945
pubmed:issue
2
pubmed:dateCreated
2006-1-31
pubmed:abstractText
To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/K08 NS048204
,
http://linkedlifedata.com/resource/pubmed/grant/R01NS27042
,
http://linkedlifedata.com/resource/pubmed/grant/R01NS43560
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7707449
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Methionine
,
http://linkedlifedata.com/resource/pubmed/chemical/Myelin Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/PMP22 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Threonine
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0364-5134
pubmed:author
pubmed-author:ClarkAlisaA
,
pubmed-author:FischerRichard ARA
,
pubmed-author:KamholzJohnJ
,
pubmed-author:KolodnyEdwinE
,
pubmed-author:KrajewskiKaren MKM
,
pubmed-author:LupskiJames RJR
,
pubmed-author:MeeSS
,
pubmed-author:SaifiGulam MustafaGM
,
pubmed-author:ScavinaMena TMT
,
pubmed-author:SchererSteven SSS
,
pubmed-author:ShyMichael EME
,
pubmed-author:SzigetiKingaK
pubmed:issnType
Print
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
358-64
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:16437560-Adult
,
pubmed-meshheading:16437560-Charcot-Marie-Tooth Disease
,
pubmed-meshheading:16437560-Child
,
pubmed-meshheading:16437560-Female
,
pubmed-meshheading:16437560-Genotype
,
pubmed-meshheading:16437560-Humans
,
pubmed-meshheading:16437560-Male
,
pubmed-meshheading:16437560-Methionine
,
pubmed-meshheading:16437560-Middle Aged
,
pubmed-meshheading:16437560-Mutation
,
pubmed-meshheading:16437560-Myelin Proteins
,
pubmed-meshheading:16437560-Neural Conduction
,
pubmed-meshheading:16437560-Peripheral Nerves
,
pubmed-meshheading:16437560-Phenotype
,
pubmed-meshheading:16437560-Threonine
pubmed:year
2006
pubmed:articleTitle
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
pubmed:affiliation
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA. m.shy@wayne.edu
pubmed:publicationType
Journal Article
,
Comparative Study
,
Research Support, Non-U.S. Gov't
,
Research Support, N.I.H., Extramural