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Building a modern six-dimensional biobank fosters the future of precision medicine
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作者 Tian-Yu Lian Yi Yan +3 位作者 Dong Ding Yue-Jiao Ma Xue Zhang Zhi-Cheng Jing 《Science Bulletin》 SCIE EI CAS CSCD 2022年第24期2490-2493,共4页
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 repo... 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]. 展开更多
关键词 罕见病 新药研发 生物样本 ARTERIAL HYPERTENSION
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