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Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

作者信息

Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T

出版信息

Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29.

DOI:10.1111/j.1365-2133.2011.10516.x
PMID:21729033
Abstract
摘要

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ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.ABCA12是非大疱性先天性鱼鳞病样红皮病的主要致病基因。
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引用本文的文献

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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.在一名厄瓜多尔丑角鱼鳞病患者中鉴定出一种新型ABCA12病理变异：在基因型-表型相关性研究方面向前迈进了一步。
Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.