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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
1
2023
CMT2A, Charcot-Marie-Tooth 2A, MFN2, Mendelian conditions, altered splicing transcripts, autosomal recessive Charcot-Marie-Tooth disease, c, cDNA, full, full-length transcripts, intron 6, long-read isoform complementary DNA, mRNA, neuropathy, open reading frames, patient, patient-derived fibroblast cell line, patient-derived fibroblast line, spliced, transcript
Author NameAffiliation
Andrew B StergachisUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Martha Horike-PyneUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Kathleen A LeppigUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Ghayda M MirzaaUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Wendy H RaskindUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Elisabeth A RosenthalUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Elisabeth A RosenthalUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Stanley F NelsonUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Stanley F NelsonUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Michael J BamshadUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Michael J BamshadUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Gail P JarvikUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Gail P JarvikUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
Fuki M HisamaUniversity of Washington School of Medicine Brotman Baty Institute for Precision Medicine (A.B.S., F.M.H.) University of Washington (E.E.B., Institute of Public Health Genetics Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA Institute for Precision Health (L.-K.W., David Geffen School of Medicine, University of California Los Angeles Department of Laboratory Medicine and Pathology (U.S., University of Washington School of Medicine Department of Pediatrics (D.D., University of Washington Group Health Cooperative (K.A.L.), Kaiser Permanente Washington Seattle Children's Research Institute (G.M.), Center for Integrative Brain Research and Department of Biochemistry (S.H.), University of Washington School of Medicine
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