Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Distribution of JAGGED1 Mutations in Alagille Syndrome Patients with and Without Renal Disease
| Phenotypic Categories | JAG1 Mutation Type and Frequency | ||||||
|---|---|---|---|---|---|---|---|
| Nonsense | Missense | Deletion | Insertion | Insertion/ Deletion | Splice Site Alteration | Translocation | |
| Renal Anomaly (n=73) | 16 (21.9%) | 10 (13.7%) | 23 (31.5%) | 11 (15.1%) | 2 (2.7%) | 11 (15.1%) | 0 |
| No Renal Anomaly (n=114) | 28 (24.6%) | 15 (13.2%) | 33 (28.9%) | 17 (14.9%) | 0 | 20 (17.5%) | 1 (0.9%) |
