Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome-Reference-Cited by-同舟云学术

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

Published:2011-09-13 Issue:9 Volume:6 Page:e24925
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Hwang Cheol-Sang,Sukalo Maja,Batygin Olga,Addor Marie-Claude,Brunner Han,Aytes Antonio Perez,Mayerle Julia,Song Hyun Kyu,Varshavsky Alexander,Zenker Martin

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference75 articles.

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3. Johanson-Blizzard syndrome.;JA Hurst;J Med Genet,1989

4. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.;A Johanson;J Pediatr,1971

5. Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development.;NL Jones;J Pediatr,1994

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