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Detection of Gene Mutations in a Family of Congenital Atrichia with Papular Lesions
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 11
- DOI:
- 10.3760/j.issn:0412-4030.2005.11.004
- Key Word:
- 先天性无毛症;突变
Abstract： 目的研究1例伴丘疹性损害的先天性无毛症患者基因突变情况.方法采用PCR和DNA直接测序法检测伴丘疹性损害的先天性无毛症HR基因的突变,同时对2个与秃发相关的基因GJB6和CDSN基因进行突变检测.结果在HR基因、GJB6基因和CDSN基因所检测的区域中均未检测到突变,在HR基因和CDSN基因上发现了数处单核苷酸多态性(SNP).结论在该伴丘疹性损害的先天性无毛症家庭中未检测到HR、GJB6和CDSN基因的突变.
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