Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

BACKGROUND: Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation. Our previous work has sh...

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Hlavní autoři: Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2011
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3172311/
https://ncbi.nlm.nih.gov/pubmed/21931868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0024925
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