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: Ismail, Nur Farrah Dila
格式: Thesis
语言:English
出版: 2015
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在线阅读:http://eprints.usm.my/40732/1/Dr._Nur_Farrah_Dila_Ismail-24_pages.pdf
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