- Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis
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Oh BH, Park JK, Choi YM, Yang IM, Kim YS, Choi YK
- KMID: 1421288
- J Korean Med Sci.
- 1988 Jun;3(2):73-77.
- doi: 10.3346/jkms.1988.3.2.73
For the purpose of prenatal diagnosis of CAH, genetic linkage analysis by HLA genotyping with lymphocytes and cultured amniotic cells were performed in a family at risk in which two... -
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- 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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- 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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- 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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- Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program
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Yoo HW, Astrin KH, Desnick RJ
- KMID: 1421957
- J Korean Med Sci.
- 1993 Feb;8(1):84-91.
- doi: 10.3346/jkms.1993.8.1.84
Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency... -
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