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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Autores principales: Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2011
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Research Article
Acceso en línea: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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