Article
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Human mutation - 1 Apr 2018
Jang Yoon J, LaBella Abigail L, Feeney Timothy P, Braverman Nancy, Tuchman Mendel, Morizono Hiroki, Ah Mew Nicholas, Caldovic Ljubica
Abstract excerpt
The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. About 10%-15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region or splice junctions of the OTC gene on routine molecular testing. We collected DNA from such patients via...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.