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Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
Terrinoni, Alessandro; Sala, Gabriele; Bruno, Ernesto; Pitolli, Consuelo; Minieri, Marilena; Pieri, Massimo; Gambacurta, Alessandra; Campione, Elena; Belardi, Riccardo; Bernardini, Sergio.
Afiliação
  • Terrinoni A; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Sala G; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Bruno E; Department of Clinical Sciences and Translational Medicine University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Pitolli C; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
  • Minieri M; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Pieri M; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Gambacurta A; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Campione E; Department of System Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Belardi R; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
  • Bernardini S; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Int J Mol Sci ; 24(18)2023 Sep 11.
Article em En | MEDLINE | ID: mdl-37762265
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Ceratodermia Palmar e Plantar / Eritroceratodermia Variável / Ictiose Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Ceratodermia Palmar e Plantar / Eritroceratodermia Variável / Ictiose Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália