Abstract Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder
that includes congenital exocrine pancreatic insufficiency, multiple malformations such as
nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated
locus to chromosome 15q14–21.1 and identified mutations, mostly truncating ones, in the
gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one
of at least four functionally overlapping E3 ubiquitin ligases of the N-end rule pathway, a …

Erratum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes
pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
(Nature Genetics (2005) 37 (1345-1350)) — Seoul National University College of Medicine …
Erratum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes
pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
(Nature Genetics (2005) 37 (1345-1350)) …