摘要
In 2001, Dr. Zhi-Cheng Jing encountered a pulmonary arterial hypertension (PAH) patient from a large pedigree. Dr. Jing collected the clinical information and blood samples from this pedigree and was the first to report the pedigree of familial PAH in China [1]. In2004, this pedigree was confirmed to carry a mutation in BMPR2(Arg491Trp), which was the first evidence of pathogenicity of BMPR2 mutation in the Chinese population [2].
作者
连天宇
颜艺
丁东
马悦佼
张学
荆志成
Tian-Yu Lian;Yi Yan;Dong Ding;Yue-Jiao Ma;Xue Zhang;Zhi-Cheng Jing(The Medical Science Research Center,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;Heart Center and Shanghai Institute of Pediatric Congenital Heart Disease,Shanghai Children’s Medical Center,National Children’s Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;The Department of Cardiology,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;McKusick-Zhang Center for Genetic Medicine,State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
基金
supported by the Chinese Academy of Medical Science Innovation Fund for Medical Sciences,abbreviated as CIFMS,involving three grant numbers(2021-I2M-1-018,2020-I2M-C&T-B-004,and 2020-I2M-C&T-B-003)
National High Level Hospital Clinical Research Funding(2022-PUMCH-B-099)。
