Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.

Zhang, Li; Yu, Li; Shu, Xianhong; Ding, Jing; Zhou, Jingmin; Zhong, Chunjiu; Pan, Baishen; Guo, Wei; Zhang, Chunyan; Wang, Beili

Zhang, Li; Yu, Li; Shu, Xianhong; Ding, Jing; Zhou, Jingmin; Zhong, Chunjiu; Pan, Baishen; Guo, Wei; Zhang, Chunyan; Wang, Beili.

Affiliation

Zhang L; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
Yu L; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
Shu X; Department of Echocardiography, Zhongshan Hospital, Shanghai Institute of Cardiovascular Diseases, Shanghai Institute of Medical Imaging, Fudan University, Shanghai, China.
Ding J; Department of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
Zhou J; Department of Cardiology Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, Shanghai, China.
Zhong C; Department of Neurology, Zhongshan Hospital, State Key Laboratory, Fudan University, Shanghai, China.
Pan B; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
Guo W; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.
Zhang C; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China. zhang.chunyan@zs-hospital.sh.cn.
Wang B; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China. wang.beili1@zs-hospital.sh.cn.

J Hum Genet ; 68(11): 737-743, 2023 Nov.

Article in En | MEDLINE | ID: mdl-37386068

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: China

Fulltext

XML

PubMed Links

Search on Google