Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

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Bibliographic Details
Title: Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Authors: Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia. bgro4046@uni.sydney.edu.au.; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia. bgro4046@uni.sydney.edu.au., Svaren J; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.; Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI, USA., Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia., Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia.; Sydney Medical School, University of Sydney, Camperdown, NSW, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.
Source: Neurogenetics [Neurogenetics] 2021 Jul; Vol. 22 (3), pp. 149-160. Date of Electronic Publication: 2021 Jun 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1364-6753
DOI:10.1007/s10048-021-00650-9