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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.

Document type:
Journal Article; Article
Author(s):
Sukalo, Maja; Schäflein, Eva; Schanze, Ina; Everman, David B; Rezaei, Nima; Argente, Jesús; Lorda-Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin
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.Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lack...     »
Journal title abbreviation:
Mol Genet Genomic Med
Year:
2017
Journal volume:
5
Journal issue:
6
Pages contribution:
774-780
Language:
eng
Fulltext / DOI:
doi:10.1002/mgg3.319
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29178640
TUM Institution:
Klinik und Poliklinik für Psychosomatische Medizin und Psychotherapie
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