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. 2020 Mar 14;11(3):310. doi: 10.3390/genes11030310

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Schematic representation of the GDAP1 domain structure. Studied protein changes are indicated. GDAP1 m1 is a truncated version of GDAP1, lacking the domains responsible for correct localization of the protein (HD and TMD). Dominant mutations leading to the given substitution are flagged by stars (*) and recessive instances by a hashtag (#). GDAP1 m4, which may be inherited in both dominant and recessive ways, is indicated by dot (•). Domains (based on Pfam database): (GST) glutathione S-transferase domain; (HD) hydrophobic domain; (TMD) transmembrane domain.