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[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Apr 2007

Zhang Zheng-Zhong, Li Wei, Zhou Fu-Sheng, Gao Min, Xiao Feng-Li, Fang Qiao-Yun, Shen Yu-Jun, Du Wen-Hui, Sui Wei-Chi, Yang Sen, Zhang Xue-Jun

Abstract excerpt

OBJECTIVE: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family. METHOD: All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls....

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PMID: 17536260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17536260-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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