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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A; Antonarakis, Stylianos E; Brussino, Alessandro; Brusco, Alfredo.
Afiliação
  • Giorgio E; Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy.
  • Robyr D; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Spielmann M; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, Berlin 14195, Germany.
  • Ferrero E; Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy.
  • Di Gregorio E; Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy Medical Genetics Unit and.
  • Imperiale D; Centro Regionale Malattie Da Prioni - Domp (ASLTO2), Torino 10144, Italy.
  • Vaula G; Department of Neurology, Città della Salute e della Scienza University Hospital, Torino 10126, Italy.
  • Stamoulis G; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Santoni F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Atzori C; Centro Regionale Malattie Da Prioni - Domp (ASLTO2), Torino 10144, Italy.
  • Gasparini L; Department of Neuroscience and Brain Technologies and.
  • Ferrera D; Department of Neuroscience and Brain Technologies and.
  • Canale C; Department of Nanophysics, Istituto Italiano di Tecnologia, Genoa 16163, Italy and.
  • Guipponi M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Pennacchio LA; Genomics Division, Lawrence Berkeley National Laboratory, MS 84-171, Berkeley, CA 9472, USA.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
  • Brussino A; Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy.
  • Brusco A; Department of Medical Sciences, University of Torino, via Santena, 19, Torino 10126, Italy Medical Genetics Unit and alfredo.brusco@unito.it.
Hum Mol Genet ; 24(11): 3143-54, 2015 Jun 01.
Article em En | MEDLINE | ID: mdl-25701871
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Elementos Facilitadores Genéticos / Deleção de Sequência / Doença de Pelizaeus-Merzbacher / Lamina Tipo B Limite: Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 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: Elementos Facilitadores Genéticos / Deleção de Sequência / Doença de Pelizaeus-Merzbacher / Lamina Tipo B Limite: Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália