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Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
Gagliardi, S; Ricca, I; Ferrarini, A; Valente, M; Grieco, G S; Piccolo, G; Alfonsi, E; Delledonne, M; Cereda, C.
Afiliação
  • Gagliardi S; Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
  • Ricca I; Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
  • Ferrarini A; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Valente M; Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
  • Grieco GS; Genomic and Post-Genomic Center, National Neurological Institute C. Mondino, Pavia, Italy.
  • Piccolo G; Consultant Neurologist, National Neurological Institute C. Mondino, Pavia, Italy.
  • Alfonsi E; Neurophysiology Unit, IRCCS National Neurological Institute "C. Mondino", Pavia, Italy.
  • Delledonne M; Department of Biotechnologies, University of Verona, Verona, Italy.
  • Cereda C; Personal Genomics Srl, Verona, Italy.
Br J Dermatol ; 177(1): 284-286, 2017 07.
Article em En | MEDLINE | ID: mdl-27639257
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Mutação Puntual / Ceratodermia Palmar e Plantar / Proteína P0 da Mielina / Mutação de Sentido Incorreto / Queratina-1 Tipo de estudo: Diagnostic_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Mutação Puntual / Ceratodermia Palmar e Plantar / Proteína P0 da Mielina / Mutação de Sentido Incorreto / Queratina-1 Tipo de estudo: Diagnostic_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Dermatol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália