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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...
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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6292170/ https://ncbi.nlm.nih.gov/pubmed/30541480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0733-3 |
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