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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057103/ https://www.ncbi.nlm.nih.gov/pubmed/31876100 http://dx.doi.org/10.1002/mgg3.1104 |