Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1
Author:
Affiliation:
1. Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2. Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2013/010/KSMGG6_2013_v10n1_33.pdf
Reference19 articles.
1. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
2. The myotonic dystrophies: diagnosis and management
3. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, et al. Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993;52:875-883.
4. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52:1164-1174.
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