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

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 c...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Laadhar, Sahar, Ben Mansour, Riadh, Marrakchi, Slaheddine, Miled, Nabil, Ennouri, Mariem, Fischer, Judith, Kaddechi, Mohamed Ali, Turki, Hamida, Fakhfakh, Faiza
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057103/
https://ncbi.nlm.nih.gov/pubmed/31876100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1104
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