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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Udgivet i:BMC Med Genet
Main Authors: Yokoi, Katsuyuki, Nakajima, Yoko, Inagaki, Hidehito, Tsutsumi, Makiko, Ito, Tetsuya, Kurahashi, Hiroki
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Case Report
Online adgang: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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