A novel ATP2C1 early truncation mutation suggests haploinsufficiency as a pathogenic mechanism in a patient with hailey-hailey disease

Akitaka Shibata, Kazumitsu Sugiura, Utako Kimura, Kenji Takamori, Masashi Akiyama

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13 Citations (Scopus)

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Neuroscience

Pharmacology, Toxicology and Pharmaceutical Science

Medicine and Dentistry