全长度异形序列测定用于解决Charcot-Marie-Tooth 2A的分子基础

Andrew B Stergachis¹, Elizabeth E Blue¹, Madelyn A Gillentine¹+33

• ¹From the Department of Medicine (A.B.S., E.E.B., A.S.C., J.R., A.A., A.E.B., S.C., A.B.F., M.H.-P., A.P., W.H.R., E.A.R., S. Sheppeard, S. Strohbehn, V.P.S., P.H.H.B., G.P.J., F.M.H.), Genome Sciences (A.B.S., G.P.J.), University of Washington School of Medicine; Brotman Baty Institute for Precision Medicine (A.B.S., E.E.B., D.D., I.G., D.E.M., G.M., M.J.B., K.M.D., G.P.J., F.M.H.); University of Washington (E.E.B., J.C., A.T.K.), Institute of Public Health Genetics; Department of Laboratories (M.A.G.), Seattle Children's Hospital, WA; Institute for Precision Health (L.-K.W., A.Y.H., S.F.N.), David Geffen School of Medicine, University of California Los Angeles; Department of Laboratory Medicine and Pathology (U.S., D.E.M., T.T.T., M.H.W., P.H.H.B.), University of Washington School of Medicine; Department of Pediatrics (D.D., I.G., D.E.M., G.M., M.J.B., K.M.D.), Department of Biostatistics (A.T.K.), 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, Seattle, WA.