- Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
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Sim JE, Park HJ, Shin HY, Nam TS, Kim SM, Choi YC
- KMID: 1727867
- Yonsei Med J.
- 2013 May;54(3):578-582.
- doi: 10.3349/ymj.2013.54.3.578
PURPOSE: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive neuromuscular disorder characterized by early adult-onset weakness of the distal muscles of the lower limbs. The clinical spectrum of GNE... -
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- Characterization of cis-acting elements in the rat ATP citrate-lyase gene promoter
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Moon YA, Park SW, Kim KS
- KMID: 1093599
- Exp Mol Med.
- 2002 Mar;34(1):60-68.
The cis-acting element in the promoter of the rat ATP-citrate lyase (ACL) and transcription factors which interact with these elements were determined. Six Sp1 binding sites and CAAT box exist... -
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- Identification of a Novel Single Nucleotide Polymorphism of HADHA Gene at a Referred Primer-binding Site During Pre-diagnostic Tests for Preimplantation Genetic Diagnosis
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Lee HS, Choi HW, Lim CK, Koong MK, Kang IS, Yoo HW, Choi JH, Jun JH
- KMID: 1781894
- J Korean Med Sci.
- 2006 Oct;21(5):794-799.
- doi: 10.3346/jkms.2006.21.5.794
The pre-diagnostic test for preimplantation genetic diagnosis (PGD) of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by polymerase chain reaction (PCR) and direct sequencing for hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A... -
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