Publications by authors named "Nik Mohd Ariff Nik Abdul Malik"
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
J Mol Diagn
March 2017
Article Synopsis
- * A study involving 34 Malaysian TSC patients utilized a new detection method combining multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS), resulting in 18% of patients with TSC1 mutations and 62% with TSC2 mutations, while 18% had no mutations.
- * This combined strategy not only identified novel mutations but also reduced detection costs by 81% and shortened the processing time by one week compared to traditional methods, suggesting
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes.
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