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

Acta dermato-venereologica - 1 Nov 2013

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

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PMID: 23474827
DOI: 10.2340/00015555-1551

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