Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous.

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Presentation transcript:

Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor Azni Yahya, Narazah Mohd. Yusoff, Teguh Haryo Sasongko, Z.A.M.H. Zabidi-Hussin The Journal of Molecular Diagnostics Volume 19, Issue 2, Pages 265-276 (March 2017) DOI: 10.1016/j.jmoldx.2016.10.009 Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Distribution of pathogenic or likely pathogenic mutations along both genes. Square indicates nonsense; triangle, missense; arrow, indel frameshift; circle, splice site mutation. Boxes indicate protein domains41 within Hamartin (1: transmembrane domain, 2: tuberin-interacting domain; 3: coiled-coil domain) and Tuberin (4: leucine zipper domain; 5: coiled-coil domain; 6: hamartin-interacting domain; 7: coiled-coil domain; 8: GAP domain). The Journal of Molecular Diagnostics 2017 19, 265-276DOI: (10.1016/j.jmoldx.2016.10.009) Copyright © 2017 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions