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Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
J Mol Diagn. 2017 Mar;19(2):265-276. doi: 10.1016/j.jmoldx.2016.10.009. Epub 2017 Jan 11.
J Mol Diagn. 2017.
PMID: 28087349
Free article.
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.
Mohseni J, Boon Hock C, Abdul Razak C, Othman SN, Hayati F, Peitee WO, Haniffa M, Zilfalil BA, Mohd Rawi R, Ngu LH, Sasongko TH.
Mohseni J, et al. Among authors: boon hock c.
Gene. 2014 Jan 1;533(1):240-5. doi: 10.1016/j.gene.2013.09.081. Epub 2013 Oct 5.
Gene. 2014.
PMID: 24103480
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