Associated Papers
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M et al.
Human Mutation, 2014
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.
Zenker M et al.
Endocrinology and Metabolism Clinics of North America, 2006
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M et al.
Nature Genetics, 2005
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.
Schoner K et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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