Advantages of ddPCR in detection of PLP1 duplications
Author:
Affiliation:
1. Department of Pediatrics, St. Marianna University School of medicine
2. Institute of Medical Genetics, Tokyo Women's Medical University
3. Tokyo Women’s Medical University Institute of Integrated Medical Sciences
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/8/3/8_2019.01067/_pdf
Reference10 articles.
1. 1. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005; 6:1-16.
2. 2. Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto). 2013; 53:3-8.
3. 3. Shimojima K, Inoue T, Hoshino A, et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 2010; 32:171-179.
4. 4. Hwang VJ, Maar D, Regan J, Angkustsiri K, Simon TJ, Tassone F. Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR. BMC Med Genet. 2014; 15:106.
5. 5. Shoda K, Masuda K, Ichikawa D, Arita T, Miyakami Y, Watanabe M, Konishi H, Imoto I, Otsuji E. HER2 amplification detected in the circulating DNA of patients with gastric cancer: A retrospective pilot study. Gastric Cancer. 2015; 18:698-710.
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