- Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR
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Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC
- KMID: 1778571
- J Korean Med Sci.
- 2004 Dec;19(6):870-873.
- doi: 10.3346/jkms.2004.19.6.870
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only... -
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- The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier
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Song KS, Lee CH, Chung CS, Lee K, Yang YH, Kim KY
- KMID: 1092416
- Yonsei Med J.
- 1993 Sep;34(3):239-242.
- doi: 10.3349/ymj.1993.34.3.239
We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal... -
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