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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Bibliografske podrobnosti
izdano v:Front Med (Lausanne)
Main Authors: Teye, Kwesi, Koga, Hiroshi, Hamada, Takahiro, Matsuda, Mitsuhiro, Ichiki, Mikio, Numata, Sanae, Ishii, Norito, Nakama, Takekuni
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2020
Teme:
Medicine
Online dostop: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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