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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Bibliografiska uppgifter
I publikationen:Front Med (Lausanne)
Huvudupphovsmän: Teye, Kwesi, Koga, Hiroshi, Hamada, Takahiro, Matsuda, Mitsuhiro, Ichiki, Mikio, Numata, Sanae, Ishii, Norito, Nakama, Takekuni
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2020
Ämnen:
Medicine
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7498616/
https://ncbi.nlm.nih.gov/pubmed/33015087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmed.2020.00492
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