A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
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| Title: | A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. |
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| Authors: | Abad C; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. cabad@med.miami.edu., Cook MM; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. mcook@ggc.org., Cao L; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. LCao@med.miami.edu., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. juliejones@ggc.org., Rao NR; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. n.rao@miami.edu., Dukes-Rimsky L; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. ldrimsky@ggc.org., Pauly R; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. rpauly@ggc.org., Skinner C; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. cds11251977@gmail.com., Wang Y; School of Computing, Clemson University, Clemson, SC 29634, USA. yunshew@g.clemson.edu., Luo F; School of Computing, Clemson University, Clemson, SC 29634, USA. luofeng@clemson.edu., Stevenson RE; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. res@ggc.org., Walz K; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. KWalz@med.miami.edu.; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, FL 33136, USA. KWalz@med.miami.edu., Srivastava AK; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.; Department of Genetics and Biochemsitry, Clemson University, Clemson, SC 29634, USA. anand@ggc.org. |
| Source: | Biology [Biology (Basel)] 2018 May 24; Vol. 7 (2). Date of Electronic Publication: 2018 May 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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