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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Bottega, Roberta; Nicchia, Elena; Cappelli, Enrico; Ravera, Silvia; De Rocco, Daniela; Faleschini, Michela; Corsolini, Fabio; Pierri, Filomena; Calvillo, Michaela; Russo, Giovanna; Casazza, Gabriella; Ramenghi, Ugo; Farruggia, Piero; Dufour, Carlo; Savoia, Anna.
  • Bottega R; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
  • Nicchia E; Department of Medical Sciences, University of Trieste, Genoa, Italy.
  • Cappelli E; Clinical and Experimental Hematology Unit, "G. Gaslini" Children's Hospital, Genoa, Italy.
  • Ravera S; Department of Pharmacy (DIFAR), Biochemistry Lab, University of Genoa, Genoa, Italy.
  • De Rocco D; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
  • Faleschini M; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
  • Corsolini F; U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, "G. Gaslini" Children's Hospital, Genoa, Italy.
  • Pierri F; Clinical and Experimental Hematology Unit, "G. Gaslini" Children's Hospital, Genoa, Italy.
  • Calvillo M; Clinical and Experimental Hematology Unit, "G. Gaslini" Children's Hospital, Genoa, Italy.
  • Russo G; Oncology Hematology Pediatric Unit, "Policlinico - Vittorio Emanuele", University of Catania, Pisa, Italy.
  • Casazza G; Pediatric Onco-Hematology, Azienda Ospedaliera/Universitaria Pisana, Pisa, Italy.
  • Ramenghi U; Department of Pediatric and Public Health Sciences, University of Torino, Palermo, Italy.
  • Farruggia P; Pediatric Onco-Hematology, ARNAS Civico Hospital, Palermo, Italy.
  • Dufour C; Clinical and Experimental Hematology Unit, "G. Gaslini" Children's Hospital, Genoa, Italy.
  • Savoia A; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy anna.savoia@burlo.trieste.it.
Haematologica ; 103(3): 417-426, 2018 03.
Article en En | MEDLINE | ID: mdl-29269525
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi / Mitocondrias Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteína del Grupo de Complementación A de la Anemia de Fanconi / Anemia de Fanconi / Mitocondrias Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2018 Tipo del documento: Article