Genotype-phenotype study of tuberous sclerosis complex in selected cohort of Malaysian patients with TSC2 mutations
TSC (Tuberous Sclerosis Complex) is an autosomal dominant disorder characterized by a widespread hamartomatous lesion in multiple affected organs. It is a syndrome caused by mutations in either of these two genes, TSC1 and TSC2. Here, mutation analysis as well as genotype-phenotype correlation as...
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| 主要作者: | |
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| 格式: | Thesis |
| 語言: | English |
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2015
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| 主題: | |
| 在線閱讀: | http://eprints.usm.my/40732/1/Dr._Nur_Farrah_Dila_Ismail-24_pages.pdf |
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