- Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients
-
Jin DK, Beck NS, Oh PS
- KMID: 1963061
- J Genet Med.
- 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within... -
- CITED
-
- Close
- SHARE
-
- Close
- Correlation between Genotype and Phenotype in Korean patients with Spinal Muscular Atrophy
-
Won SY, Ryu KH, Lee EH, Hahn SH, Pai KS, Kim SH
- KMID: 2007242
- J Korean Child Neurol Soc.
- 1999 Oct;7(1):10-20.
BACKGROUND: Spinal muscular atrophy (SMA) is the second most common disease with autosomal recessive mode of inheritance in children and characterized by degeneration of anterior horn cells of the spinal... -
- CITED
-
- Close
- SHARE
-
- Close
- Molecular Diagnosis of 21-hydroxylase (CYP21) Gene mutations in Congenital Adrenal Hyperplasia
-
Lee HS, Cheon KW, Park YS, Han IK, Kang IS
- KMID: 2262293
- Korean J Obstet Gynecol.
- 2001 Jun;44(6):1171-1177.
OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is most often caused by a deficiency in steroid 21-hydroxylase (21-OH), a microsomal enzyme encoded by the CYP21 gene.... -
- CITED
-
- Close
- SHARE
-
- Close
- CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
-
Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW
- KMID: 2369771
- Ann Lab Med.
- 2015 Sep;35(5):535-539.
- doi: 10.3343/alm.2015.35.5.535
CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions.... -
- CITED
-
- Close
- SHARE
-
- Close
