A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review
COPA syndrome is a rare autosomal dominant disorder with auto-immune and auto-inflammatory abnormalities. This disease is caused by mutations of COPα, a protein that functions in the retrograde transport from the Golgi to the ER. Here we report the first COPA case of an 11-year-old boy with c.841C&a...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
|
| Subjects: | |
| Online Access: | https://doaj.org/article/27a8eefbf7b3444ea39fe7e9d19acd2a |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|