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- W2073766178 abstract "Charcot-Marie-Tooth disease type 1A, the most common inherited peripheral neuropathy, is associated with a submicroscopic DNA duplication of 1.5 Mb that can arise de novo, and which is flanked by a > 17 kb mosaic repeat. The PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patients, point mutations can occur within the gene. Thus, the alternative mechanisms of overexpression of PMP22 and structural alterations in the protein encoded can cause the disease phenotype." @default.
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- W2073766178 date "1993-06-01" @default.
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- W2073766178 title "Charcot-Marie-Tooth disease type 1A: mutational mechanisms and candidate gene" @default.
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- W2073766178 doi "https://doi.org/10.1016/0959-437x(93)90118-9" @default.
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