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

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 ATP2C1 mutation could be determined by standard Sange...

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Detalles Bibliográficos
Autores principales: Teye, Kwesi, Koga, Hiroshi, Hamada, Takahiro, Matsuda, Mitsuhiro, Ichiki, Mikio, Numata, Sanae, Ishii, Norito, Nakama, Takekuni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7498616/
https://www.ncbi.nlm.nih.gov/pubmed/33015087
http://dx.doi.org/10.3389/fmed.2020.00492

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