Φορτώνει......
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism
ABCC8 encodes the SUR1 subunit of the β-cell ATP-sensitive potassium channel whose loss of function causes congenital hyperinsulinism (CHI). Molecular diagnosis is critical for optimal management of CHI patients. Unfortunately, assessing the impact of ABCC8 variants on RNA splicing remains very chal...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Mutat |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2021
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8049974/ https://ncbi.nlm.nih.gov/pubmed/33410562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24164 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|