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[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 1 Aug 2003

Li Hang, Sun Xiukun, Bu Dingfang, Zhu Xuejun

Abstract excerpt

OBJECTIVE: To screen and identify gene mutations of 11 Chinese patients with Hailey-Hailey disease (HHD). METHODS: Cases of HHD were diagnosed by history, clinical menifestations and pathology. Then genomic DNA samples of patients were extracted from perpheral blood leukocytes, and polymerase chain reaction(PCR), DNA sequencing were performed. RESULTS: We found five mutations in ATP2C1 gene including 3 nonsense...

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PMID: 12947555

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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