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Genes related to harlequin ichthyosis
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- Author:
- No author available
- Journal Title:
- INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
- Issue:
- 4
- DOI:
- 10.3760/cma.j.issn.1673-4173.2007.04.007
- Key Word:
- 鳞癣样红皮病,先天性;ABCA12;DNA突变分析
Abstract： 丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型.常具有显著的临床表现,大多数患儿死产或于产后早期死亡.近来,丑角样鱼鳞病遗传学发病机制的研究取得很大进展,发现了导致丑角样鱼鳞病发病的致病基因及其相关分子.目前认为,ABCA12是角质包膜中参与脂质转运的角质细胞脂质转运子,它的功能缺失导致角质层脂质转运出现障碍从而引起丑角样鱼鳞病发病.对丑角样鱼鳞病致病基因及其功能的研究有助于丑角样鱼鳞病的诊断、遗传咨询及治疗.
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