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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 원문보기

Journal of Korean medical science : JKMS, v.21 no.5 = no.111, 2006년, pp.794 - 799  

Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Choi, Hye Won (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Lim, Chun Kyu (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Koong, Mi Kyoung (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Kang, Inn Soo (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) ,  Yoo, Han-Wook (Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.) ,  Choi, Jin-Ho (Medical Genetics Clinic & Laboratory, Department of Pediatri) ,  Jun, Jin Hyun

Abstract AI-Helper 아이콘AI-Helper

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 hydratase (HADH...

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참고문헌 (17)

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  13. 13 Wong LJ Chen TJ Dai P Bird L Muenke M Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of Craniosynostosis syndrome Am J Med Genet 2001 102 282 285 11484208 

  14. 14 Solano AR Dourisboure RJ Weitzel J Podesta EJ A cautionary note: false homozyosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele Eur J Hum Genet 2002 10 395 397 12080393 

  15. 15 Zajickova K Krepelova A Zofkova I A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI misgenotyping in the vitamin D receptor gene J Bone Miner Res 2003 18 1754 1757 14584884 

  16. 16 Leibelt C Budowle B Collins P Daouid Y Moretti T Nunn G Reeder D Roby R Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles Forensic Sci Int 2003 133 220 227 12787655 

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