Publications by authors named "Chia Boon Hock"
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 Lock Hock Ngu
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
Background: Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
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