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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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| Główni autorzy: | , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Public Library of Science
2011
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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