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

BACKGROUND: 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...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Clinical Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5702574/
https://ncbi.nlm.nih.gov/pubmed/29178640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.319
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