Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Abstract Background Erythrokeratodermia variabilis et progressiva (EKVP, OMIM 133200) is a rare hereditary disorder characterized by varies from transient, fast moving erythema to persistent brown hyperkeratotic plaques. Recently, mutations in the genes gap junction alpha 1 gene (GJA1), GJB3, and GJ...

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主要な著者:	Changxing Li, Jingyao Liang, Pingjiao Chen, Kang Zeng, Rujun Xue, Xin Tian, Liuping Liang, Qi Wang, Minglan Shi, Xibao Zhang
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2019-06-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	Connexins 43 Erythrokeratodermia variabilis et progressiva Gap junction alpha 1 gene
オンライン･アクセス:	https://doi.org/10.1002/mgg3.670
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