- Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis
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Hwang H, Lee JH, Choi YC
- KMID: 2418945
- Yonsei Med J.
- 2017 Sep;58(5):1051-1054.
- doi: 10.3349/ymj.2017.58.5.1051
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient... -
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- Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
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Kesari A, Idris MM, Chandak GR, Mittal B
- KMID: 1056225
- Exp Mol Med.
- 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but... -
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- Determination of SMN1 and SMN2 Copy Numbers in a Korean Population using Multiplex Ligation-dependent Probe Amplification
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Yoon S, Lee CH, Lee KA
- KMID: 1096826
- Korean J Lab Med.
- 2010 Feb;30(1):93-96.
- doi: 10.3343/kjlm.2010.30.1.93
Determination of the copy number of the survival motor neuron (SMN) gene is important for detecting spinal muscular atrophy (SMA) carriers and compound heterozygous patients. Multiplex ligationdependent probe amplification (MLPA)... -
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