- Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients
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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... -
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- Genotype Distribution and Gene Frequency of Angiotensin I-Converting Enzyme in Korean Population
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Yang YM, Park JH, Moon ES
- KMID: 1963059
- J Genet Med.
- 1997 Sep;1(1):17-22.
BACKGROUND: The angiotensin converting enzyme(ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cadiovascular diseases. Deletion polymorphism in the ACE... -
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- Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis)
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Goswami HK, Shrivastava N, Gopal SK, Sharna S, Chandorkar M, Lee IH, Chang SK
- KMID: 1963058
- J Genet Med.
- 1997 Sep;1(1):11-16.
A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm... -
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- The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population
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Shim SH, Cho YH, Choi SK, Chung SR
- KMID: 1963060
- J Genet Med.
- 1997 Sep;1(1):23-26.
Myotonic dystrophy(DM) is caused by the expansion of CTG trinucleotide repeat near the 3' end of the gene encoding for a member of protein kinase gene family (DMPK). The normal... -
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- Molecular Profiling of Human Gliomas by cDNA Expression Array
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Zhang W, Chenchik A, Chen S, Siebert P, Rhee CH
- KMID: 1963066
- J Genet Med.
- 1997 Sep;1(1):57-59.
Extensive research in this decade has led to detailed understanding of genetic changes underlying human cancers. Two major tumorigenic events are mutation and amplification of oncogenes and inactivation of tumor... -
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- Molecular biological diagnosis of Spinal Muscular atrophy
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Lee KS, Hwang HY, Lee KH, Park MS, Hahn SH, Hong CH
- KMID: 1963062
- J Genet Med.
- 1997 Sep;1(1):33-38.
Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease... -
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- Nager Syndrome associated with 45,X Monosomy
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Chung JH, Chi JG
- KMID: 1963056
- J Genet Med.
- 1997 Sep;1(1):1-4.
Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this... -
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- Construction and Analysis of Painting Probe for Homogeneously Staining Regions in Human Neuroblastoma Cell line IMR-32
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Park SH, Kim HC, Chun YH
- KMID: 1963064
- J Genet Med.
- 1997 Sep;1(1):45-50.
Painting probe for HSRs in IMR-32 Neuroblastoma, a pediatric malignant neoplasm of neural crest origin, has a wide range of clinical virulence. The mechanisms contributing to the development of neuroblastomas... -
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- Mutation Analyses in Korean patients with MELAS (Mitochondrial Encephalomyopathy, Lactic acidosis, and Stroke like episodes)
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Yoo HW, Kim GH, Ko TS
- KMID: 1963063
- J Genet Med.
- 1997 Sep;1(1):39-44.
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is inherited maternally, in which the MTTL1*MELAS 3243 mutation has been most commonly found as a heteropla smy of A... -
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- Successful treatment of a child with citrullinemia
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Lee KH, Park MS, Hahn SH
- KMID: 1963057
- J Genet Med.
- 1997 Sep;1(1):5-10.
The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or... -
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- A study on the patterns of expression of the DAZ and HSP genes in the testicular tissue of men with azospermia
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Lee HJ, Lee HS, Song GJ, Byun HK, Cho YH, Kim JH, Seo JT, Lee YS
- KMID: 1963065
- J Genet Med.
- 1997 Sep;1(1):51-56.
In order to examine whether microdeletions on the Y chromosome exist or not and observe the aspects of expression of DAZ which is suggested to be essential in spermatogenesis in... -
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