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Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Qazi, Talal J; Wu, Qiao; Aierken, Ailikemu; Lu, Daru; Bukhari, Ihtisham; Hussain, Hafiz M J; Yang, Jingmin; Mir, Asif; Qing, Hong.
Affiliation
  • Qazi TJ; Key Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China.
  • Wu Q; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
  • Aierken A; Key Laboratory of Molecular Medicine and Biotherapy, Department of Biology, School of Life Science, Beijing Institute of Technology, Beijing, China.
  • Lu D; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
  • Bukhari I; Chongqing Population and Family Planning, Science and Technology Research Institute, National Health and Family Planning Commission, Chongqing, China.
  • Hussain HMJ; Key Laboratory of Helicobacter pylori and Microbiota and GI Cancer in Henan Province, Marshall Medical Research Center of Zhengzhou University, The 5th affiliated Hospital of Zhengzhou University, Zhengzhou, China.
  • Yang J; Department of Nephrology, Institute of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China.
  • Mir A; State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.
  • Qing H; Chongqing Population and Family Planning, Science and Technology Research Institute, National Health and Family Planning Commission, Chongqing, China.
BMC Med Genet ; 21(1): 168, 2020 08 24.
Article in En | MEDLINE | ID: mdl-32838743
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spermine Synthase / Mutation, Missense / Mental Retardation, X-Linked / Exome Sequencing Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spermine Synthase / Mutation, Missense / Mental Retardation, X-Linked / Exome Sequencing Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: China