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A Novel Microduplication Spanning Exons 8–16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey–Hailey Disease

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Published in 2020 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2020.00492

Abstract: Hailey–Hailey disease (HHD) is genetic skin disorder characterized by repeated and exacerbated skin lesions in friction regions. ATP2C1, encoding SPCA1, was demonstrated to be the responsible gene for HHD pathogenesis. However, for some cases, no… read more here.

Keywords: hailey disease; hailey; japanese patient; sanger sequencing ... See more keywords