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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2004-2-3
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pubmed:abstractText |
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by unusual tumor-like growth, termed hamartomas that develop in a variety of tissues and organs. Clinical findings characteristic of TSC include facial angiofibroma, epilepsy and mental retardation. In the last decade, two genes (TSC1 and TSC2) responsible for this disease were identified and both of them are speculated to be a kind of tumor suppressor gene. TSC1 and TSC2 are located on 9q34 and 16p13.3, respectively. This study was designed to detect gene mutations in patients with TSC.
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pubmed:language |
chi
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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:month |
Mar
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pubmed:issn |
0578-1310
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
223-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14756965-Adolescent,
pubmed-meshheading:14756965-Adult,
pubmed-meshheading:14756965-Child,
pubmed-meshheading:14756965-Child, Preschool,
pubmed-meshheading:14756965-DNA,
pubmed-meshheading:14756965-DNA Mutational Analysis,
pubmed-meshheading:14756965-Exons,
pubmed-meshheading:14756965-Female,
pubmed-meshheading:14756965-Humans,
pubmed-meshheading:14756965-Infant,
pubmed-meshheading:14756965-Male,
pubmed-meshheading:14756965-Middle Aged,
pubmed-meshheading:14756965-Mutation,
pubmed-meshheading:14756965-Polymerase Chain Reaction,
pubmed-meshheading:14756965-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:14756965-Proteins,
pubmed-meshheading:14756965-Repressor Proteins,
pubmed-meshheading:14756965-Tuberous Sclerosis,
pubmed-meshheading:14756965-Tumor Suppressor Proteins
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pubmed:year |
2003
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pubmed:articleTitle |
[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
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pubmed:affiliation |
Department of Pediatric Neurology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
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pubmed:publicationType |
Journal Article,
Comparative Study,
English Abstract
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