A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis

A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis
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DOI:
10.1111/j.1365-2133.2005.06443.x
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发表时间:
2005-04
影响因子:
10.3
通讯作者:
Zheng-Hu Zhang;Zheng-Hu Zhang;Z. Niu;Wen-Tao Yuan;Jingjun Zhao;Fa-Xing Jiang;Jing Zhang;Bao Chai
Zheng-Hu Zhang;Zheng-Hu Zhang;Z. Niu;Wen-Tao Yuan;Jingjun Zhao;Fa-Xing Jiang;Jing Zhang;Bao Chai
中科院分区:
医学1区
文献类型:
--
作者:
Zheng-Hu Zhang;Zheng-Hu Zhang;Z. Niu;Wen-Tao Yuan;Jingjun Zhao;Fa-Xing Jiang;Jing Zhang;Bao Chai

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背景播散性浅表光化性汗孔角化症(DSAP)是一种少见的常染色体显性遗传性角化性慢性疾病,其特征是多发性浅表性角化皮损,周围有轻微隆起的角化边界。到目前为止,虽然DSAP的两个基因座已被确定,但其遗传基础和发病机制尚未阐明。
Background Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated.