|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0017262,
umls-concept:C0026473,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0183683,
umls-concept:C0185117,
umls-concept:C0205161,
umls-concept:C0205225,
umls-concept:C0242692,
umls-concept:C0758256,
umls-concept:C1414209,
umls-concept:C2911684,
umls-concept:C2931687
|
|
pubmed:issue |
7
|
|
pubmed:dateCreated |
2011-6-10
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|
pubmed:abstractText |
In some cases, a definitive confirmation of dysferlinopathy cannot be achieved by DNA test, because the mutation is detected in one allele only.
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|
pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
1468-1331
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|
pubmed:author |
|
|
pubmed:copyrightInfo |
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.
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|
pubmed:issnType |
Electronic
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|
pubmed:volume |
18
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1021-3
|
|
pubmed:meshHeading |
pubmed-meshheading:21658164-Adult,
pubmed-meshheading:21658164-Alleles,
pubmed-meshheading:21658164-Blotting, Western,
pubmed-meshheading:21658164-DNA Mutational Analysis,
pubmed-meshheading:21658164-Female,
pubmed-meshheading:21658164-Heterozygote,
pubmed-meshheading:21658164-Humans,
pubmed-meshheading:21658164-Male,
pubmed-meshheading:21658164-Membrane Proteins,
pubmed-meshheading:21658164-Monocytes,
pubmed-meshheading:21658164-Muscle, Skeletal,
pubmed-meshheading:21658164-Muscle Proteins,
pubmed-meshheading:21658164-Muscular Dystrophies, Limb-Girdle,
pubmed-meshheading:21658164-Pedigree,
pubmed-meshheading:21658164-Point Mutation,
pubmed-meshheading:21658164-RNA, Messenger,
pubmed-meshheading:21658164-Reverse Transcriptase Polymerase Chain Reaction
|
|
pubmed:year |
2011
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|
pubmed:articleTitle |
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.
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|
pubmed:affiliation |
Medical Faculty, Institute of Anatomy, University of Ljubljana, Ljubljana, Slovenia. marija.meznaric@mf.uni-lj.si
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
