Ładuje się......
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...
Zapisane w:
| Wydane w: | Mol Genet Genomic Med |
|---|---|
| Główni autorzy: | , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
John Wiley and Sons Inc.
2017
|
| Hasła przedmiotowe: | |
| Dostęp online: | 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 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|