Article
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
The Journal of molecular diagnostics : JMD - 1 Mar 2017
Ismail Nur Farrah Dila, Rani Abdul Qawee, Nik Abdul Malik Nik Mohd Ariff, Boon Hock Chia, Mohd Azlan Siti Nabilahuda, Abdul Razak Salmi, Keng Wee Teik, Ngu Lock Hock, Silawati Abdul Rashid, Yahya Nor Azni, Mohd Yusoff Narazah, Sasongko Teguh Haryo, Zabidi-Hussin Z A M H
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe...
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