:

Ying-Ling Chen1, Hong-Yue Jiang1, Dong-Ping Li1

  • 1Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.

PubMed
概括

一种新的ALK1基因突变 (R374Q) 通过损害血管形成,导致2型遗传性出血性远程切除 (HHT). 这一发现有助于早期诊断HHT,并可能指导未来的治疗策略.