Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity

Abstract Background The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investiga...

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主要な著者:	Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2020-03-01
シリーズ:	Molecular Genetics & Genomic Medicine
主題:	3D structure Congenital Ichthyosiform Erythroderma Mutation NIPAL4 gene
オンライン･アクセス:	https://doi.org/10.1002/mgg3.1104
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