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Paper Details

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.
Mol Genet Genomic Med
7
2017
47, 47 UBR1 exons, JBS, Johanson-Blizzard syndrome, MIM *605981, UBR1, UBR1 alleles, UBR1 exons, UBR1 gene, UBR1 mutation, UBR1 mutations, alleles, autosomal recessive disorder, exocrine pancreatic insufficiency, exon, hypodontia, multi-exon deletions, nasal wing hypoplasia, patients, ubiquitin ligase
Author NameAffiliation
Charu DeshpandeClinical Genetics, Guy's Hospital
Martin ZenkerInstitute of Human Genetics, University Hospital Magdeburg
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Release 1.2