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Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292170/ https://www.ncbi.nlm.nih.gov/pubmed/30541480 http://dx.doi.org/10.1186/s12881-018-0733-3 |