Nature Genetics 37, 1345 - 1350 (2005)
Published online: 20 November 2005; | doi:10.1038/ng1681
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Martin Zenker, Julia Mayerle, Markus M Lerch, Andreas Tagariello, Klaus Zerres, Peter R Durie, Matthias Beier, Georg Hülskamp, Celina Guzman, Helga Rehder, Frits A Beemer, Ben Hamel, Philippe Vanlieferinghen, Ruth Gershoni-Baruch, Marta W Vieira, Miroslav Dumic, Ron Auslender, Vera L Gil-da-Silva-Lopes, Simone Steinlicht, Manfred Rauh, Stavit A Shalev, Christian Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky
& André Reis Supplementary Fig. 1 (pdf 76K)
Pedigrees of JBS families (JBS01-JBS13) included in the study. Supplementary Fig. 2 (pdf 832K)
Expression analysis of UBR1 and UBR2 mRNA. Supplementary Table 1 (pdf 96K)
Two-point lod score analysis for the JBS locus on chromosome 15q14-15q21. Supplementary Table 2 (pdf 104K)
Exon-flanking primers used for PCR amplification and sequencing of human UBR1.
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