Preimplantation Genetic Diagnosis for Ornithine Transcarbamylase Deficiency by Simultaneous Analysis of Duplex-nested PCR and Fluorescence In Situ Hybridization : A Case Report

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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Bibliographische Detailangaben
Hauptverfasser: Lee, Hyoung-Song, Jun, Jin Hyun, Choi, Hye Won, Lim, Chun Kyu, Yoo, Han-Wook, Koong, Mi Kyoung, Kang, Inn Soo
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2007
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2693659/
https://ncbi.nlm.nih.gov/pubmed/17596675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2007.22.3.572
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