Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Al...

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Detalhes bibliográficos
Main Authors: Alur, Ramakrishna P., Vijayasarathy, Camasamudram, Brown, Jacob D., Mehtani, Mohit, Onojafe, Ighovie F., Sergeev, Yuri V., Boobalan, Elangovan, Jones, MaryPat, Tang, Ke, Liu, Haiquan, Xia, Chun-hong, Gong, Xiaohua, Brooks, Brian P.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2832668/
https://ncbi.nlm.nih.gov/pubmed/20221250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1000870
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