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Article

Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease.

The Journal of dermatology - 1 Aug 2020

Kaga-Kamijo Maya, Ikeda Shigaku

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PMID: 32483844
DOI: 10.1111/1346-8138.15425

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Novel missense mutation (A414P) in ATP2C1 in a case of familial Hailey-Hailey disease.PMID 32483844Read ↗

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Six novel ATP2C1 mutations identified in Chinese patients with Hailey-Hailey disease.Semantic proximity Read ↗

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression LevelsSemantic proximity Read ↗

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

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.Semantic proximity Read ↗

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.Semantic proximity Read ↗

A novel deletion mutation in the ATP2C1 gene in a case of generalized Hailey-Hailey disease possibly aggravated by scabies infection.Semantic proximity Read ↗

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