Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/29596
Title: Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
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Issue Date: 2017
Citation: Mol Genet Genomic Med.2017 11;(5)6:774-780
Abstract: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway.
PMID: 29178640
URI: https://hdl.handle.net/20.500.12530/29596
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. La Princesa > Artículos

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