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Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency
BACKGROUND: The aim of this study was to perform gene detection in 2 clinical cases of highly suspected ornithine transcarbamylase deficiency (OTCD) pediatric patients by first-generation sequencing technology in order to confirm the pathogenic genetic factors of their families and allow the familie...
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| Veröffentlicht in: | Med Sci Monit |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
International Scientific Literature, Inc.
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6354644/ https://ncbi.nlm.nih.gov/pubmed/30333473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/MSM.911295 |
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