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

[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease] Research Abstract Details 

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[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease] Abstract Text:

Hang Li,Xiukun Sun,Dingfang Bu,Xuejun Zhu,

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 mutations and 2 splicing mutations. Four of them were novel mutations. CONCLUSION: Both nonsense mutation and splicing mutation could affect the rusult of transcription, translation, and the functions of protein encoded by ATP2C1 gene, so the mutations reported in this study is the underlying cause of HHD.

[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease] Publishing Authors By Initials

H Li,X Sun,D Bu,X Zhu,

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[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease] Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Beijing da xue xue bao. Yi xue ban = Journal of Pe

VOLUME: 35

Page Numbers: 390-3

Journal Abbreviation: Beijing Da Xue Xue Bao

ISSN: 1671-167X

DAY: 1

MONTH: Aug

YEAR: 2003

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LANGUAGE: chi

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AFFILIATION: Department of Dermatology, Peking University First Hospital, Beijing 100034, China.

Country: China

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MEDLINETA: Beijing Da Xue Xue Bao

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