A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

• Những tác giả chính: Jingxia Zeng (Tác giả), Jing Hao (Tác giả), Wei Zhou (Tác giả), Zhaoqun Zhou (Tác giả), Hongjun Miao (Tác giả)
• Định dạng: Sách
• Được phát hành: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

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&g...