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rdf:type |
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lifeskim:mentions |
umls-concept:C0017262,
umls-concept:C0026850,
umls-concept:C0183683,
umls-concept:C0185117,
umls-concept:C0208973,
umls-concept:C0238288,
umls-concept:C1517892,
umls-concept:C1704666,
umls-concept:C1979963,
umls-concept:C2003903,
umls-concept:C2674995,
umls-concept:C2911684
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pubmed:issue |
8
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pubmed:dateCreated |
2007-2-20
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pubmed:abstractText |
Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within a tandem array of D4Z4 repeats on chromosome 4q35. In addition to muscle degeneration, most patients with FSHD develop abnormalities of the retinal vasculature. Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
20
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
569-77
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17151338-Adolescent,
pubmed-meshheading:17151338-Adult,
pubmed-meshheading:17151338-Aged,
pubmed-meshheading:17151338-Chromosomes, Human, Pair 4,
pubmed-meshheading:17151338-DNA Mutational Analysis,
pubmed-meshheading:17151338-Female,
pubmed-meshheading:17151338-Gene Expression Profiling,
pubmed-meshheading:17151338-Gene Expression Regulation,
pubmed-meshheading:17151338-Genetic Linkage,
pubmed-meshheading:17151338-Genetic Predisposition to Disease,
pubmed-meshheading:17151338-Genetic Testing,
pubmed-meshheading:17151338-Humans,
pubmed-meshheading:17151338-Male,
pubmed-meshheading:17151338-Middle Aged,
pubmed-meshheading:17151338-Muscle, Skeletal,
pubmed-meshheading:17151338-Muscular Dystrophy, Facioscapulohumeral,
pubmed-meshheading:17151338-Mutation,
pubmed-meshheading:17151338-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:17151338-Prospective Studies,
pubmed-meshheading:17151338-Retinal Artery,
pubmed-meshheading:17151338-Retinal Diseases
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pubmed:year |
2007
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pubmed:articleTitle |
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.
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pubmed:affiliation |
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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