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Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Majore, Silvia; Bonaccorsi di Patti, Maria Carmela; Valiante, Michele; Polticelli, Fabio; Cortese, Andrea; Di Bartolomeo, Sabrina; De Bernardo, Carmelilia; De Muro, Marianna; Faienza, Fiorella; Radio, Francesca Clementina; Grammatico, Paola; Musci, Giovanni.
Afiliação
  • Majore S; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
  • Bonaccorsi di Patti MC; Department of Biochemical Sciences, Sapienza University of Rome, Rome, Italy.
  • Valiante M; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
  • Polticelli F; Department of Sciences, University Roma Tre, Rome, Italy; National Institute of Nuclear Physics, Roma Tre Section, Rome, Italy.
  • Cortese A; Radiology Unit, San Camillo-Forlanini Hospital, Rome, Italy.
  • Di Bartolomeo S; Department of Biosciences and Territory, University of Molise, Pesche, Italy.
  • De Bernardo C; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
  • De Muro M; Department of Hematology, University Campus Bio-Medico of Rome, Italy.
  • Faienza F; Department of Biology, University Tor Vergata, Rome, Italy.
  • Radio FC; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.
  • Grammatico P; Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address: pgrammatico@scamilloforlanini.rm.it.
  • Musci G; Department of Biosciences and Territory, University of Molise, Pesche, Italy. Electronic address: musci@unimol.it.
Biochim Biophys Acta Mol Basis Dis ; 1864(2): 464-470, 2018 Feb.
Article em En | MEDLINE | ID: mdl-29154924
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Cátions / Hemocromatose / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Cátions / Hemocromatose / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article