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Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.
Laadhar, Sahar; Ben Mansour, Riadh; Marrakchi, Slaheddine; Miled, Nabil; Ennouri, Mariem; Fischer, Judith; Kaddechi, Mohamed Ali; Turki, Hamida; Fakhfakh, Faiza.
Affiliation
  • Laadhar S; Faculty of Sciencs of Sfax, Laboratory of Molecular and Functional Genetics, Sfax, Tunisia.
  • Ben Mansour R; Laboratory of Food Analysis Valorization and Security, Research Group "Biotechnology and pathologies", National School of Engineer of Sfax, Sfax, Tunisia.
  • Marrakchi S; Faculty of Sciences of Gafsa, Department of Life Sciences, Gafsa, Tunisia.
  • Miled N; Dermatology Department, HediChaker Hospital, Sfax, Tunisia.
  • Ennouri M; Faculty of Sciences, Department of Biological Sciences, University of Jeddah, Jeddah, KSA.
  • Fischer J; Faculty of Sciencs of Sfax, Laboratory of Molecular and Functional Genetics, Sfax, Tunisia.
  • Kaddechi MA; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Turki H; Regional Health Administration of Sidi Bouzid, Sidi Bouzid, Tunisia.
  • Fakhfakh F; Dermatology Department, HediChaker Hospital, Sfax, Tunisia.
Mol Genet Genomic Med ; 8(3): e1104, 2020 03.
Article in En | MEDLINE | ID: mdl-31876100
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ichthyosiform Erythroderma, Congenital / Receptors, Cell Surface / Mutation, Missense / Molecular Dynamics Simulation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Tunisia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Ichthyosiform Erythroderma, Congenital / Receptors, Cell Surface / Mutation, Missense / Molecular Dynamics Simulation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Tunisia