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NTIS 바로가기Journal of Korean medical science : JKMS, v.22 no.3 = no.115, 2007년, pp.572 - 576
Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) , Jun, Jin Hyun (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) , Choi, Hye Won (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) , Lim, Chun Kyu (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University College 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.) , Koong, Mi Kyoung (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.) , Kang, Inn Soo (Department of Obstetrics and Gynecology, Cheil General Hospital)
Ornithine transcarbamylase (OTC) deficiency is an X-linked co-dominant disorder. A couple, with a previous history of a neonatal death and a therapeutical termination due to OTC deficiency, was referred to our center for preimplantation genetic diagnosis (PGD). The female partner has a nonsense muta...
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