rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2007-4-26
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pubmed:abstractText |
Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin. Although this disorder causes a rather uniform pattern of muscle wasting, afflicted patients display phenotypic variability. We hypothesized that genetic variation in myostatin is a modifier of the DMD phenotype.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17428346-10399748,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17428346-10610713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17428346-11039581,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17428346-11555072,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17428346-9410897
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2350
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
19
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17428346-Adolescent,
pubmed-meshheading:17428346-Adult,
pubmed-meshheading:17428346-Child,
pubmed-meshheading:17428346-Child, Preschool,
pubmed-meshheading:17428346-Humans,
pubmed-meshheading:17428346-Infant,
pubmed-meshheading:17428346-Japan,
pubmed-meshheading:17428346-Male,
pubmed-meshheading:17428346-Muscular Dystrophy, Duchenne,
pubmed-meshheading:17428346-Mutation, Missense,
pubmed-meshheading:17428346-Myostatin,
pubmed-meshheading:17428346-Polymerase Chain Reaction,
pubmed-meshheading:17428346-Sequence Analysis, DNA,
pubmed-meshheading:17428346-Transforming Growth Factor beta
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pubmed:year |
2007
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pubmed:articleTitle |
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
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pubmed:affiliation |
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, 6500017, Japan. 034d595m@y03.kobe-u.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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