Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
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| Title: | Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. |
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| Authors: | Helman G; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia., Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hagemann TL; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin., Perng MD; Institute of Molecular Medicine, College of Life Sciences, National Tsing Hua University, Hsinchu, Taiwan., Walkiewicz M; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sase S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cross Z; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Du Y; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Zhao L; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Waldman A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haake BC; Regions Hospital, Saint Paul, Minnesota., Fatemi A; Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland., Brenner M; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, Alabama., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Messing A; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Simons C; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia. |
| Source: | Human mutation [Hum Mutat] 2020 Jun; Vol. 41 (6), pp. 1131-1137. Date of Electronic Publication: 2020 Mar 11. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24008 |
