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A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Campopiano, Rosa; Femiano, Cinzia; Chiaravalloti, Maria Antonietta; Ferese, Rosangela; Centonze, Diego; Buttari, Fabio; Zampatti, Stefania; Fanelli, Mirco; Amatori, Stefano; D'Alessio, Carmelo; Giardina, Emiliano; Fornai, Francesco; Biagioni, Francesca; Storto, Marianna; Gambardella, Stefano.
Afiliación
  • Campopiano R; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Femiano C; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Chiaravalloti MA; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Ferese R; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Centonze D; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Buttari F; Laboratory of Synaptic Immunopathology, Department of Systems Medicine, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy.
  • Zampatti S; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Fanelli M; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Amatori S; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.
  • D'Alessio C; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
  • Giardina E; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
  • Fornai F; IRCCS Neuromed, 86077 Pozzilli, Italy.
  • Biagioni F; Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.
  • Storto M; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", 00133 Rome, Italy.
  • Gambardella S; IRCCS Neuromed, 86077 Pozzilli, Italy.
Genes (Basel) ; 12(5)2021 05 19.
Article en En | MEDLINE | ID: mdl-34069712
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia