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Article

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

Molecular genetics & genomic medicine - 1 Mar 2020

Laadhar Sahar, Ben Mansour Riadh, Marrakchi Slaheddine, Miled Nabil, Ennouri Mariem, Fischer Judith, Kaddechi Mohamed Ali, Turki Hamida, Fakhfakh Faiza

Abstract excerpt

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 investigate the causative mutation in a consanguineous Tunisian family with a clinical feature of CIE with a yellowish severe...

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Share to Ichthyosiform Erythroderma, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31876100
DOI: 10.1002/mgg3.1104
PMCID: PMC7057103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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