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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
Gong, Bo; Yang, Lan; Wang, Qingwei; Ye, Zimeng; Guo, Xiaoxin; Yang, Chen; Hao, Fang; Shi, Yi; Huang, Yi; Qu, Chao; Yang, Zhenglin.
Affiliation
  • Gong B; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Yang L; Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
  • Wang Q; Department of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Ye Z; School of Clinic Medicine, Southwest Medical University, Luzhou, Sichuan, China.
  • Guo X; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Yang C; Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
  • Hao F; School of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
  • Shi Y; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Huang Y; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Qu C; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
  • Yang Z; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Mol Genet Genomic Med ; 7(4): e00594, 2019 04.
Article in En | MEDLINE | ID: mdl-30838813
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Full text: 1 Database: MEDLINE Main subject: Fibrillin-1 / Genetic Carrier Screening / Marfan Syndrome / Mutation Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Mol Genet Genomic Med Year: 2019 Type: Article Affiliation country: China
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Full text: 1 Database: MEDLINE Main subject: Fibrillin-1 / Genetic Carrier Screening / Marfan Syndrome / Mutation Type of study: Diagnostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Mol Genet Genomic Med Year: 2019 Type: Article Affiliation country: China