- De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases
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Mukherjee , Chaturvedi LS, Srivastava S, Mittal RD, Mittal B
- KMID: 1097259
- Exp Mol Med.
- 2003 Apr;35(2):113-117.
Dinucleotide repeat polymorphism based genetic analysis is a powerful approach to gain insight into rare genetic events like germline mosaicism and de novo mutations. The loss of heterozygosity of polymorphic... -
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- Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea
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Lee BL, Nam SH, Lee JH, Ki CS, Lee M, Lee J
- KMID: 1792998
- J Korean Med Sci.
- 2012 Mar;27(3):274-280.
- doi: 10.3346/jkms.2012.27.3.274
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six... -
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- Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
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Suh MR, Lee KA, Kim EY, Jung J, Choi WA, Kang SW
- KMID: 2419120
- Yonsei Med J.
- 2017 May;58(3):613-618.
- doi: 10.3349/ymj.2017.58.3.613
PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries.... -
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- Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene
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Park Y, Kim J, Choi JR, Song J, Chung JS, Lee KA
- KMID: 1781571
- Korean J Lab Med.
- 2008 Oct;28(5):386-391.
- doi: 10.3343/kjlm.2008.28.5.386
BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness... -
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