- Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization: A Case Report
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Lee HS, Jun JH, Choi HW, Lim CK, Yoo HW, Koong MK, Kang IS
- KMID: 1778375
- J Korean Med Sci.
- 2007 Jun;22(3):572-576.
- doi: 10.3346/jkms.2007.22.3.572
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... -
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