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Molecular characterization of CPS1 deletions by array CGH
CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varyi...
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| Izdano u: | Mol Genet Metab |
|---|---|
| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4869965/ https://ncbi.nlm.nih.gov/pubmed/20855223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.08.020 |
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