Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Affiliations: Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical information Sciences, Gifu University, Gifu 501-1194, Japan, Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo 162‑8666, Japan, Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501‑1194, Japan, Department of Pediatrics, Nihon University School of Medicine, Sapporo, Hokkaido 063‑0005, Japan, Department of Pediatrics and Clinical Research, NHO Hokkaido Medical Center, Sapporo, Hokkaido 063‑0005, Japan, Department of Pediatrics, Takamatsu Red Cross Hospital, Takamatsu, Kagawa 760-0017, Japan
- Published online on: April 14, 2015 https://doi.org/10.3892/ijmm.2015.2184
- Pages: 1554-1560
Copyright: © Aoyama et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].