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Study on the mutations of ATP2C1 gene in patients with Hailey-Hailey disease

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Author:
No author available
Journal Title:
CHINESE JOURNAL OF DERMATOLOGY
Issue:
6
DOI:
10.3760/j.issn:0412-4030.2006.06.002
Key Word:
天疱疮,良性家族性;基因,ATP2C1;突变

Abstract: 目的探讨家族性良性天疱疮17个先证者的ATP2C1基因突变.方法采用PCR和DNA直接测序的方法,检测17个家族性良性天疱疮先证者的ATP2C1基因外显子区.结果在9个先证者中检测到8个不同的ATP2C1基因突变位点,包括3个缺失突变(nt1464-1487/1462-1485del,1523delAT和2375delTTGT),3个剪接位点突变(360-2A→G,1415-2A→T和2243+2T→C)及2个错义突变(P307L和D648Y).120例正常人对照中均未检测到上述几种突变.结论此8个ATP2C1基因突变是该病新的特异突变.

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